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American Journal of Medical Genetics. Part A|October 26, 2020
Variants in NAA15 cause pediatric hypertrophic cardiomyopathyAlyssa Ritter, Justin H Berger, Matthew Deardorff, et al.American Journal of Medical Genetics. Part A|October 26, 2020
Craniocervical junction issues after infancy in achondroplasiaCory J Smid, Janet M Legare, Peggy Modaff, et al.American Journal of Medical Genetics. Part A|December 11, 2020
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detectionMarta Moreno-García, Ana Rosa Arteche-López, María Isabel Álvarez-Mora, et al.American Journal of Medical Genetics. Part A|December 12, 2018
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disordersYing Li, Xiangbin Jia, Huidan Wu, et al.American Journal of Medical Genetics. Part A|December 15, 2018
Malan syndrome: Extension of genotype and phenotype spectrumArchana Rai, Dhanya Lakshmi Narayanan, Shubha R PhadkeAmerican Journal of Medical Genetics. Part A|December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotypeValerie Gartner, Thomas C Markello, Ellen Macnamara, et al.American Journal of Medical Genetics. Part A|December 15, 2018
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblingsMoritz Hebebrand, Georgia Vasileiou, Mandy Krumbiegel, et al.American Journal of Medical Genetics. Part A|December 19, 2018
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findingsHülya Azakli, Ayse Deniz Akkaya, Murat Serhat Aygün, et al.American Journal of Medical Genetics. Part A|December 21, 2013
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizuresP Y Billie Au, Bob Argiropoulos, Jillian S Parboosingh, et al.American Journal of Medical Genetics. Part A|December 21, 2013
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islandsJean-Luc Alessandri, Fabrice Cuillier, Valerie Malan, et al.Pageof 928