Detalhe da pesquisa
1.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
2.
Long-term outcomes for females with early-onset dystrophinopathy.
Dev Med Child Neurol
; 65(8): 1093-1104, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562406
3.
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Am J Med Genet A
; 182(3): 431-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769200
4.
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.
Horm Res Paediatr
; : 1-14, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232712
5.
Genetic findings in short Turkish children born to consanguineous parents.
Horm Res Paediatr
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838658
6.
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
JCI Insight
; 9(6)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516887
7.
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.
J Neuromuscul Dis
; 10(3): 315-325, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36911945
8.
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.
Front Genet
; 14: 1226766, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795243
9.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Eur J Hum Genet
; 31(1): 97-104, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253531
10.
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.
Nucleic Acid Ther
; 32(2): 83-94, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34591693
11.
The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands.
J Neuromuscul Dis
; 9(4): 543-553, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723110
12.
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
J Endocr Soc
; 6(4): bvac019, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35233476
13.
Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.
Horm Res Paediatr
; 94(3-4): 81-104, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34091447
14.
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
J Neuromuscul Dis
; 8(2): 261-272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386810
15.
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Horm Res Paediatr
; 94(11-12): 448-455, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706368
16.
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Front Endocrinol (Lausanne)
; 12: 660731, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194391
17.
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.
J Clin Endocrinol Metab
; 105(7)2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282051
18.
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Horm Res
; 72(3): 129-41, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19729943
19.
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.
J Clin Endocrinol Metab
; 104(8): 3157-3171, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848790
20.
Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.
Transl Psychiatry
; 9(1): 200, 2019 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31434868