Items where Author is "Katta, Girisha M"
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Number of items: 16.

Article

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

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

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 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.

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

Katta, Girisha M (2018) Genomic and phenotypic delineation of congenital microcephaly. Genetics In Medicine. pp. 1-8. ISSN 1098-3600

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

Periyasamy, Radhakrishnana and Moirangthema, Amita and Nayaka, Shalini S and Shuklaa, Anju and Mathew, Mary and Katta, Girisha M (2018) Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. Clinical Dysmorphology, 28 (1). pp. 17-21. ISSN 0962-8827

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

Katta, Girisha M and Gangham, SriLakshmi B (2018) Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype. PACE - Pacing and Clinical Electrophysiology, 42 (2). pp. 201-207. ISSN 01478389

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

This list was generated on Sat Mar 23 02:55:18 2019 UTC.