about
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansIdentifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variabilityMutations in NOTCH1 cause Adams-Oliver syndromeHeterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeMutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationDe Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeMosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.Exome Sequencing and the Management of Neurometabolic Disorders.Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.Treatable inborn errors of metabolism causing neurological symptoms in adults.Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate.BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome).Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result.How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians' Practice.Transcriptional regulation of BACE1, the beta-amyloid precursor protein beta-secretase, by Sp1.Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesLoss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.Evidence of ancillary trigeminal innervation of levator palpebrae in the general population.Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.Intracranial calcification after cord blood neonatal transplantation for krabbe disease.DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia.A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.Etiologies of uterine malformations.Child Neurology: Krabbe disease: a potentially treatable white matter disorder.Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domainCorneal findings in Parry–Romberg syndromeChildhood-onset hemiatrophy caused by unilateral morpheaNew developmental syndromes: Understanding the family experience
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Anna Lehman
@ast
Anna Lehman
@en
Anna Lehman
@es
Anna Lehman
@nl
Anna Lehman
@sl
type
label
Anna Lehman
@ast
Anna Lehman
@en
Anna Lehman
@es
Anna Lehman
@nl
Anna Lehman
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prefLabel
Anna Lehman
@ast
Anna Lehman
@en
Anna Lehman
@es
Anna Lehman
@nl
Anna Lehman
@sl
P1053
R-6706-2017
P106
P1153
7006050672
P21
P31
P3829
P496
0000-0003-0636-123X