Detalhe da pesquisa
1.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913761
2.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
3.
Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.
Mol Genet Metab
; 142(1): 108476, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653092
4.
Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).
Vasc Med
; : 1358863X241235669, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38568107
5.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
6.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
7.
Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.
Mol Genet Metab
; 138(3): 107528, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774919
8.
Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.
Mol Genet Metab
; 140(3): 107655, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517329
9.
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies.
Mol Genet Metab
; 140(3): 107690, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37659319
10.
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.
Mol Genet Metab
; 140(3): 107683, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597335
11.
Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.
Mol Genet Metab
; 140(4): 107735, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37989003
12.
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.
Mol Genet Metab
; 139(1): 107582, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087816
13.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
14.
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
J Med Genet
; 59(3): 294-304, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495304
15.
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Hum Mutat
; 43(12): 1673-1705, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150100
16.
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet
; 104(5): 925-935, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982609
17.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
18.
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.
Mol Genet Metab
; 137(4): 445-448, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33775522
19.
Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.
Mol Genet Metab
; 136(2): 118-124, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35422340
20.
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.
Mol Genet Metab
; 137(1-2): 213-222, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155185