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NPJ Genomic Medicine|March 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndromeJosephina A N Meester, Anne Hebert, Maaike Bastiaansen, et al.
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsEleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnosesRocio Rius, Alison G Compton, Naomi L Baker, et al.
American Journal of Medical Genetics. Part A|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
Nature Genetics|August 30, 2016
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.
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