Detalhe da pesquisa
1.
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Nature
; 577(7788): 109-114, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827280
2.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
3.
Sirenomelia: An anatomical assessment and genetic sex determination of two cases.
J Anat
; 244(6): 1093-1101, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38267217
4.
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Am J Hum Genet
; 101(2): 206-217, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735859
5.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939640
6.
Bridging the gap in genetics: a progressive model for primary to specialist care.
BMC Med Educ
; 19(1): 195, 2019 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31185964
7.
Parents' Understanding of Genetics and Heritability.
J Genet Couns
; 26(3): 541-547, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27747461
8.
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
BMJ Open
; 12(2): e055664, 2022 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35193919
9.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nat Genet
; 53(7): 1006-1021, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211179
10.
Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.
Mov Disord Clin Pract
; 7(7): 834-837, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043079
11.
Student Reflections on the Queen's Accelerated Route to Medical School Programme.
J Med Educ Curric Dev
; 6: 2382120519836789, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30944887
12.
Primary care providers' lived experiences of genetics in practice.
J Community Genet
; 10(1): 85-93, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700759
13.
Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature.
Case Rep Pediatr
; 2016: 6123150, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27738543
14.
Atypical late presentation of galactosemia.
Can J Ophthalmol
; 54(4): e194-e196, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358168
15.
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
Pediatr Neurol
; 51(2): 192-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25079567
16.
X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.
Am J Audiol
; 23(1): 1-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24096866
17.
Gaucher disease associated with parkinsonism: four further case reports.
Am J Med Genet A
; 116A(4): 348-51, 2003 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12522789