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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
PHIP -associated Chung-Jansen syndrome
Episignature Mapping of TRIP12 provides functional insight into Clark-Baraitser Syndrome
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Further delineation of the KAT6B molecular and phenotypic spectrum
Reconstruction of images from Gabor graphs with applications in facial image processing
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Automated Syndrome Detection in a Set of Clinical Facial Photographs
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome