Detalhe da pesquisa
1.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Genet Med
; 23(7): 1356-1365, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824503
2.
EuroGEMS.org: Guide and links to online genetic and genomic educational resources, valuable for all levels.
Hum Mutat
; 41(12): 2021-2027, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906220
3.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
4.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
5.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
6.
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Endocrine
; 84(2): 345-349, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400880
7.
Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency.
Horm Res Paediatr
; 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38011841
8.
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Am J Med Genet C Semin Med Genet
; 160C(3): 205-16, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791362
9.
Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
J Pediatr Endocrinol Metab
; 25(1-2): 147-8, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570964
10.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
; 359(16): 1685-99, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18784092
11.
Incident venous thromboembolic events in the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER).
BMC Geriatr
; 11: 8, 2011 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21342490
12.
Creation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and Families.
Front Genet
; 12: 621683, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34305996
13.
The Role of the European Society of Human Genetics in Delivering Genomic Education.
Front Genet
; 12: 693952, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34539735
14.
The Levodopa Response Varies in Pathologically Confirmed Parkinson's Disease: A Systematic Review.
Mov Disord Clin Pract
; 7(2): 218-222, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071945
15.
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.
Clin Dysmorphol
; 28(3): 114-119, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30921090
16.
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants.
Clin Dysmorphol
; 33(1): 38-42, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038056
17.
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.
Eur J Med Genet
; 62(1): 27-34, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29698805
18.
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.
Sex Dev
; 10(3): 130-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27598577
19.
DNA copy number variations are important in the complex genetic architecture of müllerian disorders.
Fertil Steril
; 103(4): 1021-1030.e1, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25707337
20.
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
J Clin Endocrinol Metab
; 88(9): 4251-7, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12970295