Detalhe da pesquisa
1.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593811
2.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Am J Hum Genet
; 110(8): 1356-1376, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421948
3.
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Hum Mol Genet
; 31(8): 1325-1335, 2022 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740257
4.
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Am J Med Genet A
; 194(3): e63461, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953071
5.
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
BMC Neurol
; 24(1): 87, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438854
6.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
7.
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Am J Med Genet A
; 185(3): 836-840, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443296
8.
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Am J Med Genet A
; 182(4): 697-704, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876392
9.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Am J Hum Genet
; 99(4): 934-941, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616479
10.
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Am J Med Genet A
; 173(3): 733-739, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27888646
11.
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Am J Med Genet A
; 170(10): 2711-8, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27320698
12.
Behçet's disease and cerebral sinus vein thrombosis in children: a case study and review of the literature.
Clin Exp Rheumatol
; 33(6 Suppl 94): S163-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486489
13.
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
EBioMedicine
; 99: 104940, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154379
14.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041148
15.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
16.
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Sci Adv
; 6(4): eaax0021, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32010779
17.
The proto-oncogene ERG in megakaryoblastic leukemias.
Cancer Res
; 65(17): 7596-602, 2005 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16140924
18.
Keeping the heart in mind when managing hemolytic: uremic syndrome.
Isr Med Assoc J
; 13(7): 446-7, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21838193
19.
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.
Neurol Genet
; 4(4): e248, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30046660