Shah H - Search Results

1

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.

Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Among authors: shah h. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.

2

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome.

Shah H, Singh G, Vijayan S, Girisha KM. Shah H, et al. Clin Dysmorphol. 2011 Jan;20(1):55-57. doi: 10.1097/MCD.0b013e32833f000b. Clin Dysmorphol. 2011. PMID: 20808218 No abstract available.

3

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.

Girisha KM, Vasudevan TG, Saadi AV, Shah H, Gopinath PM, Satyamoorthy K. Girisha KM, et al. Among authors: shah h. Clin Dysmorphol. 2011 Oct;20(4):205-209. doi: 10.1097/MCD.0b013e328348d956. Clin Dysmorphol. 2011. PMID: 21716096 No abstract available.

4

Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports.

Girisha KM, Pratap D, Shah HH. Girisha KM, et al. Among authors: shah hh. Clin Dysmorphol. 2012 Apr;21(2):83-86. doi: 10.1097/MCD.0b013e328350ae74. Clin Dysmorphol. 2012. PMID: 22391619 Review. No abstract available.

5

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Shah H, Bens S, Caliebe A, Graham JM Jr, Girisha KM. Shah H, et al. Am J Med Genet A. 2012 Nov;158A(11):2941-5. doi: 10.1002/ajmg.a.35618. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987502 Free PMC article.

6

Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis.

Tercier S, Siddesh ND, Shah H, Girisha KM, Joseph B. Tercier S, et al. Among authors: shah h. J Child Orthop. 2012 Aug;6(4):319-25. doi: 10.1007/s11832-012-0408-0. Epub 2012 Jul 19. J Child Orthop. 2012. PMID: 23904899 Free PMC article.

7

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K. Girisha KM, et al. Among authors: shah h. Am J Med Genet A. 2014 Apr;164A(4):1035-40. doi: 10.1002/ajmg.a.36381. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458843

8

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Girisha KM, Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, Shah H. Girisha KM, et al. Among authors: shah h, shah kh. Am J Med Genet A. 2014 Apr;164A(4):898-906. doi: 10.1002/ajmg.a.36367. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478176

9

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, Hasegawa K, Tanaka H, Phadke SR. Stephen J, et al. Among authors: shah h. Am J Med Genet A. 2014 Jun;164A(6):1482-9. doi: 10.1002/ajmg.a.36481. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668929

10

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: shah h. Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25252036

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