Detalhe da pesquisa
1.
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.
J Med Genet
; 59(8): 768-775, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400558
2.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833929
3.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med
; 23(12): 2360-2368, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429528
4.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400813
5.
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).
Clin Endocrinol (Oxf)
; 95(6): 818-840, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031907
6.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
7.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
8.
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
Am J Med Genet A
; 182(7): 1725-1734, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32449309
9.
Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a Child.
Pediatr Cardiol
; 41(4): 843-845, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720784
10.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658852
11.
Genetic testing of XY newborns with a suspected disorder of sex development.
Curr Opin Pediatr
; 30(4): 548-557, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29782383
12.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 24(4): 967, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394429
13.
Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic death.
Cardiol Young
; 27(7): 1271-1279, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28606196
14.
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
15.
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.
Eur J Hum Genet
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627541
16.
Gonadal Function in Boys with Bilateral Undescended Testes.
J Endocr Soc
; 8(2): bvad153, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38205164
17.
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
18.
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
Clin Genet
; 83(2): 187-90, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22428906
19.
Diagnostic pitfalls in a young adult with new diabetes.
Endocrinol Diabetes Metab Case Rep
; 2023(4)2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37855645
20.
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