Detalhe da pesquisa
1.
Simultaneous proteoglycans and hypoxia mapping of chondrosarcoma environment by frequency selective CEST MRI.
Magn Reson Med;
86(2): 1008-1018, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33772858
2.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet;
100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28132691
3.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet;
98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27108799
4.
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
Mol Ther;
26(1): 256-268, 2018 01 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29033008
5.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn;
39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31273809
6.
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Hum Mol Genet;
24(10): 2757-63, 2015 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25650408
7.
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Am J Med Genet A;
173(2): 531-536, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27868338
8.
Synthesis and preliminary in vivo evaluation of new [18F]fluoro-inositols as Positron Emission Tomography radiotracers.
Bioorg Med Chem;
25(20): 5603-5612, 2017 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28893600
9.
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.
Prenat Diagn;
37(2): 201-205, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27943351
10.
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Hum Mutat;
37(4): 354-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26751395
11.
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
Am J Med Genet A;
170A(4): 949-57, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26698168
12.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet;
100(4): 689, 2017 04 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28388435
13.
Clinical zinc deficiency as early presentation of Wilson disease.
J Pediatr Gastroenterol Nutr;
60(4): 457-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25825851
14.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn;
35(7): 675-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25754886
15.
Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.
Pediatr Dermatol;
32(3): e124-5, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25780817
16.
Constitutional telomeric association (Y;7) in a patient with a female phenotype.
Am J Med Genet A;
161A(6): 1436-41, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23613342
17.
Diastereoselective syntheses of (3R*,4R*)- and (3R*,4S*)-4-aryl-3-methyl-4-piperidinemethanol and fluoro analogues.
J Org Chem;
78(3): 1222-9, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23298429
18.
Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
Prenat Diagn;
32(1): 21-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22052729
19.
Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica.
Acta Derm Venereol;
96(3): 424-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26351177
20.
A Case of Syndromic X-linked Ichthyosis with Léri-Weill Dyschondrosteosis.
Acta Derm Venereol;
96(6): 814-5, 2016 08 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26832328