Detalhe da pesquisa
1.
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835410
2.
[Complex congenital heart disease : about a case of Noonan syndrome]. / Cas clinique. Cardiopathie congénitale complexe : à propos d'un cas de syndrome de Noonan.
Rev Med Liege
; 78(3): 130-136, 2023 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-36924149
3.
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Clin Genet
; 99(4): 519-528, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368193
4.
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Ann Neurol
; 88(2): 348-362, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515017
5.
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
Clin Genet
; 98(2): 126-137, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32378186
6.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Am J Hum Genet
; 99(2): 451-9, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476655
7.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain
; 140(10): 2610-2622, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969385
8.
Etiologies of uterine malformations.
Am J Med Genet A
; 170(8): 2141-72, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27273803
9.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Am J Med Genet C Semin Med Genet
; 163C(2): 92-105, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606591
10.
Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
Am J Med Genet A
; 152A(9): 2322-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683999
11.
Oligo-astrocytoma in LZTR1-related Noonan syndrome.
Eur J Med Genet
; 63(1): 103617, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664951
12.
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Eur J Hum Genet
; 27(7): 1044-1053, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30796334
13.
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Eur J Med Genet
; 61(5): 257-261, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29278735
14.
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Nat Genet
; 47(1): 73-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25420144
15.
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Eur J Med Genet
; 57(5): 230-4, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613577
16.
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Nat Genet
; 47(3): 304, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25711872