Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Journal of Pediatric Genetics|August 9, 2020
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2Siulan Vendramini-Pittoli, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, et al.
American Journal of Medical Genetics. Part A|April 9, 2026
Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and AutismRoseli Maria Zechi-Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini-Pittoli, et al.
American Journal of Medical Genetics. Part A|April 22, 2024
Identification of a de novo PUF60 variant associated with craniofacial microsomiaTakuya Ogawa, Jingyi Xue, Long Guo, et al.
American Journal of Medical Genetics. Part A|July 30, 2019
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndromeAntonio Richieri-Costa, Roseli M Zechi-Ceide, Rosana M Candido-Souza, et al.
American Journal of Human Genetics|November 26, 2013
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher T Gordon, Florence Petit, Peter M Kroisel, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndromeVanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectVanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
European Journal of Human Genetics : EJHG|January 20, 2018
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeAnneke Kievit, Federico Tessadori, Hannie Douben, et al.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a NoseAngela Delaney, Rita Volochayev, Brooke Meader, et al.
Pageof 3