Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
Am J Med Genet A
; 191(1): 280-283, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36164748
3.
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Hum Genet
; 139(10): 1325-1343, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399598
4.
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
Am J Med Genet A
; 182(11): 2715-2721, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32856782
5.
Treatment of Heart Failure With Reduced Ejection Fraction-Recent Developments.
Am J Ther
; 23(2): e531-49, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26658805
6.
Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.
Endocr Metab Immune Disord Drug Targets
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243972
7.
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Adv Ther
; 41(1): 198-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882884
8.
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
Eur J Med Genet
; 68: 104916, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296035
9.
Importance of Genetic Diagnosis in Global Developmental Delay: A Case of Cabezas Syndrome Caused by CUL4B Gene Deletion and Not Identified by Array-CHG.
Cureus
; 15(9): e46010, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37900499
10.
Ectopic Intrathyroidal Parathyroid Adenoma Presenting With Osteoporotic Fractures in a Young Man: A Case Report.
Cureus
; 15(10): e47461, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-38021888
11.
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Eur J Med Genet
; 66(11): 104867, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37839784
12.
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Eur J Endocrinol
; 185(5): 691-705, 2021 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34516402
13.
Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.
Taiwan J Obstet Gynecol
; 59(2): 318-322, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32127157
14.
A fetus with an immature umbilical cord teratoma associated with exomphalos: case report and review of the literature.
Rom J Morphol Embryol
; 61(3): 953-957, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33817740
15.
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
J Clin Endocrinol Metab
; 105(8)2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32311039
16.
Reporting and methodological quality of clinical trials on exercise therapy for Parkinson's disease.
Parkinsonism Relat Disord
; 69: 150-156, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31760307
17.
Vasodilators in acute heart failure - evidence based on new studies.
Eur J Intern Med
; 51: 1-10, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29482882
18.
Genetics of personalized medicine: cancer and rare diseases.
Cell Oncol (Dordr)
; 41(3): 335-341, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29633150
19.
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.
Taiwan J Obstet Gynecol
; 56(4): 541-544, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28805615
20.
Fifteen Years of Clinical Trials in Huntington's Disease: A Very Low Clinical Drug Development Success Rate.
J Huntingtons Dis
; 6(2): 157-163, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28671135