Detalhe da pesquisa
1.
Development and validation of a severity scoring system for Zellweger spectrum disorders.
Clin Genet
; 93(3): 613-621, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28857144
2.
Frequent intragenic rearrangements of DPYD in colorectal tumours.
Pharmacogenomics J
; 15(3): 211-8, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25348620
3.
Keloids in Rubinstein-Taybi syndrome: a clinical study.
Br J Dermatol
; 171(3): 615-21, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25132000
4.
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
Clin Genet
; 83(1): 73-7, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22335494
5.
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
J Med Genet
; 47(1): 30-7, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19574259
6.
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
J Med Genet
; 47(10): 704-9, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20577006
7.
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
J Intellect Disabil Res
; 55(10): 973-87, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21790824
8.
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
J Med Genet
; 46(6): 389-98, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19346217
9.
Molecular basis of unilateral condylar hyperplasia?
Int J Oral Maxillofac Surg
; 49(11): 1397-1401, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-32423691
10.
Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?
Int J Oral Maxillofac Surg
; 49(11): 1464-1469, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-32249036
11.
Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome.
J Intellect Disabil Res
; 53(4): 319-28, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19187102
12.
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Hum Mutat
; 29(1): 150-8, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17935213
13.
Genetic syndromes and prenatally detected renal anomalies.
Semin Fetal Neonatal Med
; 13(3): 171-80, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18162447
14.
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.
J Med Genet
; 43(3): 238-43, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15994862
15.
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
J Med Genet
; 43(7): 568-75, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16236812
16.
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
JIMD Rep
; 37: 49-54, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28275972
17.
A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.
Singapore Med J
; 47(8): 724-7, 2006 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-16865217
18.
[Possible teratogenic effects of thiamazole]. / Mogelijke teratogene invloed van thiamazol.
Ned Tijdschr Geneeskd
; 150(2): 101-4, 2006 Jan 14.
Artigo
Holandês
| MEDLINE | ID: mdl-16440566
19.
A Duty To Warn Relatives in Clinical Genetics: Arguably 'Fair just and reasonable' in English Law?
Tottels J Prof Neglig
; 32(2): 120-136, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27478488
20.
Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.
J Med Genet
; 39(8): 546-53, 2002 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-12161591