Detalhe da pesquisa
1.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat;
43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35170830
2.
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Am J Med Genet A;
188(5): 1384-1395, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35025139
3.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med;
22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31316167
4.
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Am J Med Genet A;
179(12): 2494-2499, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31595668
5.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet;
54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28735298
6.
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Am J Med Genet A;
167A(12): 3214-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26358756
7.
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
Genes (Basel);
13(7)2022 07 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35885997
8.
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
Genes (Basel);
12(7)2021 07 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34356064
9.
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.
Circ Genom Precis Med;
11(6): e002039, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29875124