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Archives of Medical Research|March 24, 2004
Down syndrome: clinical profile from IndiaMaina P Kava, Milind S Tullu, Mamta N Muranjan, et al.
BMJ Case Reports|February 2, 2013
Prenatal diagnosis of absent pulmonary valve confirmed by autopsyG Vivek, Ranjan K Shetty, Shalini S Nayak, et al.
European Journal of Medical Genetics|December 4, 2016
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literatureAnju Shukla, Priyanka Upadhyai, Jhanvi Shah, et al.
Genetic Counseling (Geneva, Switzerland)|August 5, 2010
Unusual facial cleft in Fryns syndrome: defect of stomodeum?K M Girisha, P Bhat, P K Adiga, et al.
Clinical Genetics|July 11, 2018
Report of second case and clinical and molecular characterization of Eiken syndromeA Moirangthem, D L Narayanan, P Jacob, et al.
Oman Medical Journal|April 18, 2019
Pfeiffer Syndrome with Extreme Proptosis, Hypothyroidism and Tail like AppendageV Soundaram, , Leslie E Lewis, et al.
Indian Journal of Pediatrics|April 28, 2010
OpsismodysplasiaLeslie Edward S Lewis, Y Ramesh Bhat, Prashant Naik, et al.
European Journal of Medical Genetics|February 5, 2008
Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndromeK M Girisha, Valerie Cormier-Daire, Solange Heuertz, et al.
Clinical Genetics|February 17, 2016
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathyK M Girisha, A Shukla, D Trujillano, et al.
Indian Journal of Pediatrics|August 28, 2003
Congenital and inherited ophthalmologic abnormalitiesPriyanka Arora, Milind S Tullu, Mamta N Muranjan, et al.
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