about
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.Ectopic pregnancy in primary ciliary dyskinesia.How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumDeletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeThe hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis.Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.Pallister-Killian syndrome: a study of 22 British patients.A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.Anophthalmia in fronto-facial-nasal dysplasia.Phenotypic features of diploid/triploid mosaicism in an adult.Severe staphylococcal scalded skin syndrome in children.Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations.Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.Amniotic bands in paternal half-siblings.Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.Severe Marfan syndrome due to FBN1 exon deletionsA novel 2.43 Mb deletion of 7q11.22-q11.23Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effectCTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
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description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Moira Blyth
@ast
Moira Blyth
@en
Moira Blyth
@es
Moira Blyth
@nl
type
label
Moira Blyth
@ast
Moira Blyth
@en
Moira Blyth
@es
Moira Blyth
@nl
prefLabel
Moira Blyth
@ast
Moira Blyth
@en
Moira Blyth
@es
Moira Blyth
@nl
P106
P31
P496
0000-0002-4312-413X