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American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.Structure (London, England : 1993)|December 29, 2023
Antibody targeting of conserved sites of vulnerability on the SARS-CoV-2 spike receptor-binding domainRajeshwer S Sankhala, Vincent Dussupt, Wei-Hung Chen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.Orphanet Journal of Rare Diseases|June 17, 2020
Mowat-Wilson syndrome: growth chartsIvan Ivanovski, Olivera Djuric, Serena Broccoli, et al.European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.Journal of Medical Genetics|November 4, 2017
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMargot R F Reijnders, Robert Janowski, Mohsan Alvi, et al.Pageof 36