about
A therapeutic trial of pro-methylation dietary supplements in Angelman syndromeUsing VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyTruncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeOculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.Angelman Syndrome.Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection.Natural history of prenatally diagnosed 46,X,isodicentric Y.Sjögren-Larsson syndrome: a case report and literature review.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Femoral facial syndrome: a case report with coexistent hydrocephaly.Global developmental delay in a 10-month-old infant boy.Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).Angelman syndrome: review of clinical and molecular aspects.Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.Treatment of genetic disorders-A vision coming into focus.Angelman syndrome: Current and emerging therapies in 2016.Anterior cervical hypertrichosis: a dominantly inherited isolated defect.Anencephaly with holoprosencephalic facies due to ring chromosome 18.Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis.Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.Respiratory compromise after MgSO4 therapy for preterm labor in a woman with myotonic dystrophy: a case report.A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.Choroid plexus cysts in the mid-trimester fetus--practical application suggests superiority of an individualized risk method of counseling for trisomy 18.Cortical dysgenesis and 22q11 deletion.Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.Neonatal phenotype in Kabuki syndrome.Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.Marfanoid habitus with abnormal situs.Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome.Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Lynne M Bird
@ast
Lynne M Bird
@en
Lynne M Bird
@es
Lynne M Bird
@nl
Lynne M Bird
@sl
type
label
Lynne M Bird
@ast
Lynne M Bird
@en
Lynne M Bird
@es
Lynne M Bird
@nl
Lynne M Bird
@sl
prefLabel
Lynne M Bird
@ast
Lynne M Bird
@en
Lynne M Bird
@es
Lynne M Bird
@nl
Lynne M Bird
@sl
P106
P31
P496
0000-0003-4833-3747