Detalhe da pesquisa
1.
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ann Neurol
; 83(6): 1198-1204, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740868
2.
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
J Med Genet
; 51(4): 254-63, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24431329
3.
Congenital pulmonary lymphangiectasis.
Paediatr Respir Rev
; 15(3): 275-80, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24997116
4.
A second hotspot for pathogenic exon-skipping variants in CDC45.
Eur J Hum Genet
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467731
5.
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
BMC Med Genet
; 13: 60, 2012 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22830313
6.
Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
Am J Med Genet A
; 152A(7): 1752-5, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583150
7.
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Am J Med Genet A
; 161A(7): 1806-12, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23695988
8.
[Genetic counseling in multiple pregnancies]. / Humangenetische Beratung bei Mehrlingsschwangerschaften.
Gynakol Geburtshilfliche Rundsch
; 47(1): 9-13, 2007.
Artigo
em Alemão
| MEDLINE | ID: mdl-17272932
9.
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev
; 2017: 7202589, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28804536
10.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet
; 23(5): 633-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24916641
11.
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.
Eur J Gastroenterol Hepatol
; 24(8): 988-94, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22617360
12.
Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy: CARASIL.
Neurology
; 86(15): e166-e167, 2016 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27163668
13.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet
; 23(5): 720, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25880334
14.
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nat Genet
; 42(2): 160-4, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20037588
15.
Multiplex-fluorescence in situ hybridization for chromosome karyotyping.
Nat Protoc
; 1(3): 1172-84, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17406400
16.
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Hum Genet
; 119(1-2): 145-53, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16395598
17.
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Am J Hum Genet
; 76(3): 421-6, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15657873
18.
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Am J Hum Genet
; 81(4): 866-8, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17847015