Detalhe da pesquisa
1.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
2.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607920
3.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
J Neurophysiol
; 128(1): 40-61, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583973
4.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996
5.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
6.
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet
; 63(4): 539, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576627
7.
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet
; 61(3): 229-33, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26607181
8.
Automated radiogrammetry is a feasible method for measuring bone quality and bone maturation in severely disabled children.
Pediatr Radiol
; 46(7): 1017-22, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27026024
9.
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Am J Med Genet A
; 158A(10): 2412-20, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22893440
10.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182950
11.
Black discolouration of urine in two young sisters.
J Paediatr Child Health
; 52(6): 680-1, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27333853
12.
Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.
Child Neurol Open
; 8: 2329048X211048068, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761051
13.
Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.
Blood Adv
; 5(9): 2339-2349, 2021 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938942
14.
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.
JIMD Rep
; 52(1): 23-27, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154056
15.
Epidemiology of low bone mineral density and fractures in children with severe cerebral palsy: a systematic review.
Dev Med Child Neurol
; 51(10): 773-8, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19614941
16.
A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.
Eur J Med Genet
; 50(2): 112-9, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17161033
17.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Eur J Med Genet
; 58(5): 279-92, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25792522
18.
[Fragile from an early age: osteoporosis in a child with multiple severe disabilities]. / Breekbaar vanaf jonge leeftijd: osteoporose bij een kind met ernstige meervoudige beperkingen.
Ned Tijdschr Geneeskd
; 158: A8017, 2014.
Artigo
em Holandês
| MEDLINE | ID: mdl-25406819
19.
[Health care transition in young people with intellectual disabilities: from generalist to generalist]. / Transitie van zorg bij jongeren met een verstandelijke beperking: van generalist naar generalist.
Ned Tijdschr Geneeskd
; 158: A8072, 2014.
Artigo
em Holandês
| MEDLINE | ID: mdl-25406820
20.
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Nat Genet
; 44(4): 445-9, S1, 2012 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366787