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American Journal of Medical Genetics. Part A|November 26, 2010
Further delineation of the Van den Ende-Gupta syndromeRehab Ali, Mariam Almureikhi, Fatima Al-Musaifri, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 geneSiddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat, et al.
Indian Journal of Pediatrics|January 15, 2022
Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD GeneKaustubh Mohite, Karthik Vijay Nair, Anilkumar Sapare, et al.
Journal of Pediatric Genetics|August 11, 2017
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 MutationSiddaramappa J Patil, Puneeth H Somashekar, Anju Shukla, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Distal arthrogryposis type 5D with a novel ECEL1 gene mutationSiddaramappa J Patil, Gaurava Kumar Rai, Venkatraman Bhat, et al.
American Journal of Medical Genetics. Part A|September 1, 2020
Bosley-Salih-Alorainy syndrome in patients from IndiaSiddaramappa J Patil, Gadabanahalli Ashok Karthik, Gandham SriLakshmi Bhavani, et al.
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