Items where Author is "Shukla, Anju"
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Kaur, Parneet and Rosario, Michelle C do and Hebbar, Malavika and Kausthubham, Neethukrishna and Nair, Karthik and Shrikiran, A and Bhat, Ramesh Y and Lewis, Leslie Edward Simon and Girisha, KM and Shukla, Anju and Shah, Hitesh and Kadavigere, Rajagopal (2021) Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Clinical Genetics, 100 (5). pp. 542-550. ISSN 0009-9163

Narayandas, Majethia Purvi and Somashekar, Puneeth Hirivate and Hebbar, Malavika and Kadavigere, Rajagopal and Girisha, KM and Shukla, Anju (2021) Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia. Clinical Genetics, 100 (2). pp. 201-205. ISSN 0009-9163

Somashekar, Puneeth H and Kaur, Parneet and Guleria, Vishal Singh and Rajagopal, KV and Girisha, KM and Stephen, Joshi and Upadhyai, Priyanka and Shukla, Anju (2021) Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clinical Genetics, 99 (4). pp. 594-600. ISSN 0009-9163

Shukla, Anju and Kaur, Parneet and Narayanan, Dhanya L and Rosario, Michelle C do and Rajagopal, KV and Girisha, KM (2021) Genetic disorders with central nervous system white matter abnormalities: An update. Clinical Genetics, 99 (1). pp. 119-132. ISSN 0009-9163

Pandey, Shruti and Girisha, KM and Shukla, Anju (2021) Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability. Translational Psychiatry, 11 (1). pp. 1-13. ISSN 2158-3188

Nayak, Shalini S and Kausthubham, Neethukrishna and Shukla, Anju and Girisha, KM (2021) Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identifed by next‑generation sequencing. Scientific Reports, 11 (764). pp. 1-13. ISSN 2045-2322

Mishra, Shivani and Katta, Girisha M and Shukla, Anju (2021) Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies. Clinical Dysmorphology, 30. pp. 1-5. ISSN 0962-8827

Pande, Shruti and Radhakrishnan, P and Shukla, Anju and Katta, Girisha M (2021) Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. American Journal of Medical Genetics- Part A. pp. 1-10. ISSN 1552-4825

Shukla, Anju and Katta, Girisha M and Kaur, Parneet (2021) Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability,speech delay, and dysmorphism. The American Journal of Human Genetics, 108. pp. 1-13. ISSN 0002-9297

Shukla, Anju and Katta, Girisha M (2021) PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Genetics In Medicine, 23 (12). pp. 2415-2425. ISSN 1098-3600

Shukla, Anju (2021) Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features. European Journal of Human Genetics, 29. pp. 1226-1234. ISSN 1018-4813

Neethukrishna, K and Shukla, Anju and Katta, Girisha M and Bhavani, Gandham SriLakshmi (2021) A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians. Human Mutation, 42 (4). pp. 1-47. ISSN 1059-7794

Radhakrishnan, Periyasamy and Girisha, KM and Nayak, Shalini S and Shukla, Anju (2020) Mutations in mylpf cause a novel segmental amyoplasia that manifests as distal arthrogryposis. The American Journal of Human Genetics, 107. pp. 1-18. ISSN 0002-9297

Girisha, KM and Gandham, SriLakshmi Bhavani and Shah, Hitesh and Moirangthem, Amita and Shukla, Anju (2020) Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1:Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. American Journal of Medical Genetics- Part A, 182. pp. 338-347. ISSN 1552-4825

Shukla, Anju (2020) Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain, 143 (10). pp. 1-16. ISSN 0006-8950

Radhakrishnan, P and Jacob, Prince and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2020) Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families. Clinical Dysmorphology, 29 (3). pp. 123-126. ISSN 0962-8827

Girisha, KM and Shukla, Anju (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65. pp. 971-984. ISSN 1434-5161

Somashekar, Puneeth H and Upadhyai, Priyanka and Shukla, Anju and Katta, Girisha M (2020) Novel splice site and nonsense variants in INVS cause infantile nephronophthisis. Gene, 729. pp. 1-5. ISSN 0378-1119

Somashekar, Puneeth H and Upadhyai, Priyanka and Narayanan, Dhanya L and Katta, Girisha M and Shukla, Anju (2020) Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome. American Journal of Medical Genetics- Part A, 182. pp. 2951-2958. ISSN 1552-4825

Upadhyai, Priyanka and Guleria, Vishal Singh and Girisha, KM and Shukla, Anju (2020) Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature. Clinical Dysmorphology, 29 (3). pp. 127-131. ISSN 0962-8827

Girisha, KM and Shukla, Anju (2019) Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. Human Molecular Genetics, 28 (16). pp. 2720-2737. ISSN 0964-6906

Shukla, Anju and Radhakrishnan, Periyasamy and Girisha, KM (2019) The genomics of arthrogryposis, a complex trait: Candidate genes and further evidence for oligogenic inheritance. The American Journal of Human Genetics, 105. pp. 132-150. ISSN 0002-9297

Kanthi, Anil and Hebbar, Malavika and Katta, Girisha M and Shukla, Anju (2019) Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. European Journal of Medical Genetics, 62. pp. 1-4. ISSN 1769-7212

Kaur, Parneet and Girisha, KM and Shukla, Anju (2019) Confirmation of a rare genetic leukoencephalopathy due to a novel biallelic variant in RPIA. European Journal of Medical Genetics, 62. pp. 1-4. ISSN 1769-7212

Girisha, KM and Shukla, Anju and Nayak, Shalini S (2019) Cornelia de lange syndrome in diverse populations. American Journal of Medical Genetics- Part A, 179 (2). pp. 150-158. ISSN 1552-4825

Kaur, Parneet and Mishra, Shivani and Shimoga, Rajesh M and Girisha, KM and Shukla, Anju (2019) GATAD2B-related intellectual disability due to parental mosaicism and review of literature. Clinical Dysmorphology, 28 (4). pp. 190-194. ISSN 0962-8827

Katta, Girisha M and Shukla, Anju (2019) Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Medical Genetics, 20. pp. 1-11. ISSN 1471-2350

Shukla, Anju and Girisha, KM (2019) Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients. Journal of Human Genetics, 64 (12). pp. 1173-1186. ISSN 1434-5161

Kaur, Parneet and Gandham, SriLakshmi Bhavani and Raj, Arun and Girisha, KM and Shukla, Anju (2019) Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. Journal of Human Genetics, 64. pp. 1237-1242. ISSN 1434-5161

Katta, Girisha M and Neethukrishna, K and Bhavani, Gandham SriLakshmi and Shukla, Anju (2019) Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. The American Journal of Human Genetics, 104 (3). pp. 439-453. ISSN 0002-9297

Kaur, Parneet and Neethukrishna, Kausthubham and Girisha, KM and Shukla, Anju (2019) Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. American Journal of Medical Genetics- Part A, 179A. pp. 857-861. ISSN 1552-4825

Radhakrishnan, Periyasamy and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2019) Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical Genetics, 96. pp. 560-565. ISSN 0009-9163

Shukla, Anju and Katta, Girisha M and Lewis, Leslie Edward Simon (2019) NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain, 142 (1). pp. 1-9. ISSN 0006-8950

Uttarilli, Anusha and Shah, Hitesh and Gandham, SriLakshmi Bhavani and Upadhyai, Priyanka and Shukla, Anju and Katta, Girisha M (2019) Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. Bone, 120. pp. 204-211. ISSN 8756-3282

Shukla, Anju and Girisha, KM and Somashekar, Puneeth H (2019) Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability,dysmorphic features, and behavioral abnormalities. American Journal of Medical Genetics Part - A, 179A. pp. 870-874. ISSN 1552-4833

Narayanan, Dhanya L and Shukla, Anju and Kausthubham, Neethukrishna and Bhavani, Gandham SriLakshmi and Shah, Hitesh and Girisha, KM (2019) An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. American Journal of Medical Genetics Part- A, 179A. pp. 1709-1717. ISSN 1552-4833

Shukla, Anju and Narayanan, Dhanya L and Asher, Urja and Girisha, KM (2019) A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy. Clinical Genetics, 96 (3). pp. 276-277. ISSN 0009-9163

Somashekar, Puneeth H and Girisha, KM and Lewis, Leslie and Shenoy, Shailaja and Shukla, Anju (2018) Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical Genetics. pp. 1-5. ISSN 0009-9163

Salian, Smrithi and Shukla, Anju and Shah, Hitesh and Bhat, Shyamasunder N and Bhat, Veena R and Girisha, KM (2018) Seven additional families with spondylocarpotarsal synostosissyndrome with novel biallelic deleterious variants in FLNB. Clinical Genetics, 94 (1). pp. 159-164. ISSN 0009-9163

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2018) Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European Journal of Human Genetics, 26 (5). pp. 695-708. ISSN 1018-4813

Shukla, Anju and Girisha, KM (2018) Williams–Beuren syndrome in diverse populations. American Journal of Medical Genetics- Part A, 176(A) (5). pp. 1128-1136. ISSN 1552-4825

Uttarilli, Anusha and Shah, Hitesh and Shukla, Anju and Girisha, KM (2018) A review of skeletal dysplasia research in India. Journal of Postgraduate Medicine, 64 (2). pp. 98-103. ISSN 0022-3859

Hebbar, Malavika and Kanthi, Anil and Hebbar, Shrikiran and Girisha, KM and Shukla, Anju (2018) p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome. American Journal of Medical Genetics Part - A, 176 A (1). pp. 156-160. ISSN 1552-4833

Shukla, Anju and Katta, Girisha M (2018) Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. The American Journal of Human Genetics, 103 (6). pp. 948-967. ISSN 0002-9297

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Katta, Girisha M (2018) Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. Bone, 368. pp. 368-377.

Shukla, Anju and Girisha, KM (2018) FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature. BMC Medical Genetics, 19 (1). pp. 1-13.

Radhakrishnan, P and Nayak, Shalini S and Shukla, Anju and Katta, Girisha M (2018) Facial profile and additional features in fetuses with trisomy 21. Clinical Dysmorphology, 27 (4). pp. 126-129. ISSN 0962-8827

Hebbar, Malavika and Galada, Chelna and Rajagopal, KV and Katta, Girisha M and Shukla, Anju (2018) Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. European Journal of Human Genetics, 26. pp. 1582-1587. ISSN 1018-4813

Hebbar, Malavika and Shukla, Anju and Katta, Girisha M (2018) Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. Journal of Human Genetics. pp. 1-5. ISSN 1434-5161

Shambhavi, Arya and Salian, Smrithi and Shah, Hitesh and Sharan, Krishna and Mathew, Mary and Shukla, Anju and Katta, Girisha M (2018) Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor. Journal of Pediatric Genetics, 7 (1). pp. 9-13. ISSN 2146-4596

Galada, Chelna and Hebbar, Malavika and Lewis, Leslie Edward Simon and Kadavigere, Rajagopal and Katta, Girisha M and Shukla, Anju (2018) Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. Congenital Anomalies, 58 (5). pp. 181-182. ISSN 0914-3505

Shukla, Anju and Kaur, Parneet and Katta, Girisha M (2018) Report of the third family with multiple mitochondrial dysfunctions syndrome 5 caused by the founder variant p.(Glu87Lys) in ISCA1. Journal of Pediatric Genetics, 7 (3). pp. 130-133. ISSN 2146-4596

Hebbar, Malavika and Kanthi, Anil and Shukla, Anju and Katta, Girisha M (2018) A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. Journal of Human Genetics, 63 (8). pp. 935-939. ISSN 1434-5161

Girisha, KM and Neethukrishna, K and Shukla, Anju and Gandham, SriLakshmi Bhavani (2018) The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Human Mutation. pp. 1-11.

Shukla, Anju and Hebbar, Malavika and Girisha, KM (2018) A neurodegenerative Mitochondrial Disease Phenotype due to Biallelic loss-of-function variants in PNPLA8 encoding Alciumindependent Phospholipase A2Ƴ. American Journal of Medical Genetics- Part A, 176 (5). pp. 1232-1237. ISSN 1552-4825

Hebbar, Malavika and Girisha, KM and Shukla, Anju (2017) Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. European Journal of Medical Genetics, 60 (10). pp. 533-535. ISSN 1769-7212

Shukla, Anju and Girisha, KM (2017) Noonan syndrome in diverse populations. American Journal of Medical Genetics Part - A, 173 (9). pp. 2323-2334. ISSN 1552-4833

Kotabagi, S and Shah, Hitesh and Shukla, Anju and Girisha, KM (2017) Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. Clinical Genetics, 92 (3). pp. 323-326. ISSN 0009-9163

Kumar, Sandeep and Aroor, Shrikiran and Shukla, Anju (2017) A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl‑CoA thiolase gene. Molecular Medicine Reports, 15 (6). pp. 3879-3884. ISSN 1791-2997

Galada, Chelna and Shah, Hitesh and Shukla, Anju and Girisha, KM (2017) A novel sequence variant in SFRP4 causing pyle disease. Journal of Human Genetics, 62 (5). pp. 575-576. ISSN 1434-5161

Hebbar, Malavika and Chandra, Tanya and Shukla, Anju and Rajagopal, KV and Girisha, KM (2017) Complexities in genotype - Phenotype correlaion and genetic counseling in collagen VI- Related myopathy. Indian Journal of Pediatrics, 84 (4). pp. 330-331. ISSN 0019-5456

Puneeth, H and Somashekar, * and Shukla, Anju and Girisha, KM (2017) Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. Ophthalmic Genetics. pp. 1-4. ISSN 1381-6810

Girisha, KM and Hebbar, Malavika and Shukla, Anju and Shah, Hitesh and Nismath, Shifa (2017) Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. Journal of Human Genetics, 62 (3). pp. 437-441. ISSN 1434-5161

Salian, Smrithi and Gandham, SriLakshmi Bhavani and Shukla, Anju and Girisha, KM (2017) Additional Three Patients With Smith-McCort Dysplasia Due to Novel RAB33B Mutations. American Journal of Medical Genetics- Part A, 173 (3). pp. 1-8. ISSN 1552-4825

Somashekar, Puneeth H and Shukla, Anju and Girisha, KM (2017) Clinical variability in familial X-Linked ohdo syndrome–Maat-Kievit-Brunner type with MED12 mutation. Journal of Pediatric Genetics, 6 (3). pp. 198-203. ISSN 2146-4596

Shukla, Anju and Hebbar, Malavika and Rajagopal, KV and Upadhyai, Priyanka and Kanthi, A and Girisha, KM (2017) Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. Journal of Human Genetics, 62 (7). pp. 723-727. ISSN 1434-5161

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2017) Hyperphosphatasia with mental retardation syndrome due to a novel mutation in PGAP3. Journal of Pediatric Genetics, 6 (3). pp. 191-193. ISSN 2146-4596

Shukla, Anju and Girisha, KM (2017) India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin. BMC Research Notes, 10. pp. 233-236. ISSN 1756-0500

Girisha, KM and Shukla, Anju (2017) Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism. The American Journal of Human Genetics, 100 (1). pp. 117-127. ISSN 0002-9297

Radhakrishnan, P and Nayak, Shalini S and Pai, Muralidhar V and Shukla, Anju and Girisha, KM (2017) Occurrence of synpolydactyly and omphalocele in a fetus with a HOXD13 mutation. Journal of Pediatric Genetics, 6 (3). pp. 194-197. ISSN 2146-4596

Salian, Smrithi and Shukla, Anju and Girisha, KM (2017) Severe form of brachydactyly type A1 in a child with a c.298G > A mutation in IHH gene. Journal of Pediatric Genetics, 6 (3). pp. 177-180. ISSN 2146-4596

Nayak, Shalini S and Salian, Smrithi and Shukla, Anju and Mathew, Mary and Girisha, KM (2017) Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. Congenital Anomalies, 57 (3). pp. 83-85. ISSN 0914-3505

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2016) Homozygous deletion of Exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. American Journal of Medical Genetics Part A, 170 (9). pp. 2486-2489.

Upadhyay, Neha and Pai, Muralidhar V and Nayak, Shalini S and Girisha, KM and Shukla, Anju (2016) Congenital omphalocele and cleft palate in two fetuses. Congenital Anomalies, 56 (4). pp. 190-191. ISSN 0914-3505

Shah, Krupa H and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2016) Spectrum of urorectal septum malformation sequence. Congenital Anomalies, 56 (4). pp. 119-126. ISSN 0914-3505

Shukla, Anju and Upadhyai, Priyanka and Shah, Jhanvi and Neethukrishna, K and Girisha, KM (2016) Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature. European Journal of Medical Genetics, 60 (2). pp. 118-123. ISSN 1769-7212

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2016) Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. The American Journal of Human Genetics, 99. pp. 1206-1210. ISSN 0002-9297

Hebbar, Malavika and Girisha, KM and Shukla, Anju (2016) Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. BMJ Case Report. pp. 1-3. ISSN 1757-790X

Salian, Smrithi and Vahab, Saadi Abdul and Shukla, Anju and Shah, Hitesh Hasmukhalal and Ramamurhty, B and Shenoy, R and Satyamoorthy, K and Girisha, KM (2016) Evaluation of multiplex ligation dependent probe amplification as a tool for diagnosis and carrier detection in families with a dystrophinopathy. Genetic Counseling, 27 (4). pp. 449-460. ISSN 1015-8146

Salian, Smrithi and Gupta, Ashish and Shukla, Anju and Girisha, KM (2016) Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis. Indian Journal of Dermatology, 61 (1). pp. 122-125. ISSN 0019-5154

Shukla, Anju and Hebbar, Malavika and Kadavigere, Rajagopal and Girisha, KM (2016) Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome. American Journal of Medical Genetics- Part A. pp. 1-2. ISSN 1552-4825

Nayak, Shalini S and Shukla, Anju and Girisha, KM (2016) RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature Communications, 557. pp. 564-569. ISSN 0028-0836

Girisha, KM and Shukla, Anju and Bhavani, Gandham SriLakshmi and Hebbar, Malavika and Rajagopal, KV (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clinical Genetics, 90 (12). pp. 536-539. ISSN 0009-9163

Nayak, Shalini S and Shukla, Anju and Girisha, KM (2015) Anomalies Associated with Single Umbilical Artery at Perinatal Autopsy. Indian Pediatrics, 52. pp. 73-74.

Nayak, Shalini S and Shukla, Anju and Lewis, Leslie and Kadavigere, Rajagopal and Mathew, Mary and Adiga, Prashanth K and Vasudeva, Akhila and Kumar, Pratap and Shetty, Jyothi and Shah, Hitesh and Girisha, KM (2015) Clinical Utility of Fetal Autopsy and Its Impact on Genetic Counseling. Prenatal Diagnosis, 35. pp. 1-7.

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Kamath, Asha and Girisha, KM (2015) Clinical and Mutation Profile of Multicentric Osteolysis Nodulosis and Arthropathy. American Journal of Medical Genetics. pp. 1-8.

Shukla, Anju and Girisha, KM (2015) Co-Occurrence of a De Novo Williams and 22q11.2 microdeletion syndromes. American Journal of Medical Genetics Part A, 167 (4). pp. 1-5.

Bhavani, Gandham SriLakshmi and Shah, Hitesh and Shukla, Anju and Girisha, KM (2015) Novel and recurrent mutations in WISP3 and an atypical phenotype. American Journal of Medical Genetics Part A. pp. 1-4.

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Girisha, KM (2015) Progressive Pseudorheumatoid Dysplasia. GeneReviews. pp. 1-16.

Bidchol, Abdul Mueed and Shukla, Anju and Hebbar, Shrikiran and Bhat, Ramesh Y and Matta, Divya and Shah, Hitesh and Gopinath, PM and Satyamoorthy, K and Girisha, KM (2015) Recurrent and novel GLB1 mutations in India. Gene, 40 (485). pp. 1-9. ISSN 0378-1119

Nayak, Shalini S and Shukla, Anju and Kodandapani, Sreelakshmi and Adiga, Prashanth K and Girisha, KM (2015) What does fetal autopsy unmask in oligohydramnios? The Journal of Maternal-Fetal & Neonatal Medicine. pp. 1-5. ISSN 1476-7058

Girisha, KM and Nayak, Shalini S and Shukla, Anju and Bhat, SK (2005) Alobar holoprosencephaly, cleft lip/palate, urorectal septum malformation sequence and congenital perineal hernia in a fetus. Genetic Counseling, 26 (3). pp. 321-325.

This list was generated on Wed May 25 15:54:58 2022 UTC.