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Orphanet Journal of Rare Diseases|October 20, 2020
The adult phenotype of Schaaf-Yang syndromeFelix Marbach, Magdeldin Elgizouli, Megan Rech, et al.
Plos One|March 21, 2015
Identification of genes transcriptionally responsive to the loss of MLL fusions in MLL-rearranged acute lymphoblastic leukemiaMarieke H van der Linden, Lidija Seslija, Pauline Schneider, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexLaura S Farach, William T Gibson, Steven P Sparagana, et al.
American Journal of Human Genetics|December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidDavid A Parry, Clare V Logan, Alexander P A Stegmann, et al.
Journal of Neuroendocrinology|March 8, 2025
Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjectsFelipe Correa-da-Silva, Jari B Berkhout, Pim Schouten, et al.
European Journal of Human Genetics : EJHG|June 19, 2023
Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experienceVivian Vernimmen, Aimée D C Paulussen, Jos C F M Dreesen, et al.
Annals of Neurology|July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up DevelopmentKonrad Platzer, Benjamin Cogné, Jennifer Hague, et al.
Plos One|April 4, 2015
Effect of comprehensive oncogenetics training interventions for general practitioners, evaluated at multiple performance levelsElisa J F Houwink, Arno M M Muijtjens, Sarah R van Teeffelen, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Scientific Reports|July 11, 2020
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNASFrauke Swieringa, Fiorella A Solari, Oliver Pagel, et al.
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