Detalhe da pesquisa
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 111(6): 1140-1164, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776926
2.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
3.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
J Med Genet
; 60(5): 505-510, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411030
4.
Topical Calcipotriol Plus 5-Fluorouracil in the Treatment of Actinic Keratosis, Bowen's Disease, and Squamous Cell Carcinoma: A Systematic Review.
J Cutan Med Surg
; : 12034754241256347, 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38783539
5.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
6.
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
J Med Genet
; 59(4): 358-365, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820834
7.
Risk of Preterm Delivery in Very Advanced Maternal Age Parturients Utilizing In Vitro Fertilization.
Am J Perinatol
; 2023 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37604201
8.
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
J Hum Genet
; 66(4): 371-377, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037392
9.
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Am J Med Genet A
; 185(4): 1228-1235, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439541
10.
Can learning from workplace feedback be enhanced by reflective writing? A realist evaluation in UK undergraduate medical education.
Educ Prim Care
; 32(6): 326-335, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988088
11.
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.
BMC Med Genet
; 21(1): 64, 2020 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32228492
12.
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Am J Med Genet A
; 182(10): 2403-2408, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783357
13.
Pituitary apoplexy associated with acute COVID-19 infection and pregnancy.
Pituitary
; 23(6): 716-720, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32915365
14.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714006
15.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Am J Med Genet C Semin Med Genet
; 181(4): 658-681, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828977
16.
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Clin Genet
; 95(4): 496-506, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666632
17.
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Am J Med Genet A
; 179(3): 344-349, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637921
18.
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Am J Med Genet A
; 179(9): 1884-1894, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313512
19.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
20.
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Hum Mutat
; 39(10): 1360-1365, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30040876