about
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyMutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.The skeletal manifestations of the congenital disorders of glycosylation.Extended newborn screening: an update for the general paediatrician.Fumarase deficiency in dichorionic diamniotic twins.Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions.Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores.An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old.Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.Transient neonatal zinc deficiency in exclusively breastfed preterm infants.Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.A novel splice site mutation in EYA4 causes DFNA10 hearing loss.Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeSpondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pA novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short statureLong-term follow-up of patients with idiopathic infantile hypercalcaemiaDiagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleonsPrimary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type IaTwo siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?Deletions that reveal recessive genesSevere hypernatraemic dehydration in a breast-fed neonateEnzyme replacement therapy for mucopolysaccharidoses: opinions of patients and familiesUnrelated cord blood transplantation in a girl with Hoyeraal-Hreidarsson syndromeThree Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcomeLanguage skills in a child with Leber hereditary optic neuropathy following intrathecal chemotherapy for acute lymphoblastic leukemiaEnzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control studySqualene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
David J Coman
@ast
David J Coman
@en
David J Coman
@es
David J Coman
@nl
type
label
David J Coman
@ast
David J Coman
@en
David J Coman
@es
David J Coman
@nl
prefLabel
David J Coman
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David J Coman
@en
David J Coman
@es
David J Coman
@nl
P106
P1153
16834669700
P21
P31
P496
0000-0001-6303-6471