about
Tooth agenesis and orofacial clefting: genetic brothers in arms?Variability in dentofacial phenotypes in four families with WNT10A mutationsThe SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCongenital myopathy caused by a novel missense mutation in the CFL2 gene.De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesisVelopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features.Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.Further delineation of the KBG syndrome caused by ANKRD11 aberrations.Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.Quantum metrology with a scanning probe atom interferometer.Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.Oral application of bacterial lysate in infancy decreases the risk of atopic dermatitis in children with 1 atopic parent in a randomized, placebo-controlled trial.Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband SyndromesPrimary Cataract as a Key to Recognition of Myotonic Dystrophy Type 1[Solitary median maxillary central incisor syndrome][Tooth eruption disturbances and syndromes]NovelBCORmutations in patients with oculofaciocardiodental (OFCD) syndromeA rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Charlotte W Ockeloen
@ast
Charlotte W Ockeloen
@en
Charlotte W Ockeloen
@es
Charlotte W Ockeloen
@nl
Charlotte W Ockeloen
@sl
type
label
Charlotte W Ockeloen
@ast
Charlotte W Ockeloen
@en
Charlotte W Ockeloen
@es
Charlotte W Ockeloen
@nl
Charlotte W Ockeloen
@sl
altLabel
Charlotte Ockeloen
@en
prefLabel
Charlotte W Ockeloen
@ast
Charlotte W Ockeloen
@en
Charlotte W Ockeloen
@es
Charlotte W Ockeloen
@nl
Charlotte W Ockeloen
@sl
P1053
P-5732-2015
P106
P21
P31
P3829
P496
0000-0003-0329-1520