about
Mosaic structural variation in children with developmental disordersDuplication of 7p11.2-p13, including GRB10, in Silver-Russell syndromeGenetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.Epigenotype-phenotype correlations in Silver-Russell syndromeIonic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockadeFurther delineation of the KAT6B molecular and phenotypic spectrumCentral osteosclerosis with trichothiodystrophy.CCDC88A mutations cause PEHO-like syndrome in humans and mouseMutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Epigenetic signatures of Silver-Russell syndrome.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.Silver-Russell syndrome and ring chromosome 7.Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum.Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.Bone health and SATB2-associated syndrome.Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypeMild case of Curry-Jones syndromeSepto-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case reportPEHO syndrome: the endpoint of different genetic epilepsiesA novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndromePhenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic featuresLived experience of Silver-Russell syndrome: implications for management during childhood and into adulthoodLung disease associated with the IVS8 5T allele of the CFTR geneEvidence that insulin is imprinted in the human yolk sacA common polymorphism in exon 16 of the human insulin-like growth factor-1 receptor gene (IGF1R)Genetics of silver-russell syndrome
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P50
description
onderzoeker
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researcher ORCID 0000-0001-5712-0044
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name
Emma Wakeling
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Emma Wakeling
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Emma Wakeling
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Emma Wakeling
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type
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Emma Wakeling
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Emma Wakeling
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Emma Wakeling
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Emma Wakeling
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prefLabel
Emma Wakeling
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Emma Wakeling
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Emma Wakeling
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Emma Wakeling
@nl
P106
P21
P31
P496
0000-0001-5712-0044