Detalhe da pesquisa
1.
CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells.
Int J Mol Sci;
25(2)2024 Jan 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38256061
2.
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation.
Int J Mol Sci;
21(22)2020 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33203140
3.
Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.
BMC Psychiatry;
18(1): 248, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30071822
4.
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.
Genes (Basel);
12(11)2021 11 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34828442
5.
Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function.
Front Immunol;
11: 608802, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33424861
6.
Obsessive-compulsive symptoms and 15q11.2q13.1 duplication syndrome.
Eur Neuropsychopharmacol;
78: 67-69, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38041926
7.
Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?
Front Psychiatry;
10: 270, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31118906
8.
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.
J Clin Endocrinol Metab;
103(10): 3601-3610, 2018 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30032214
9.
Tep22, a novel testicular expressed gene, is involved in the biogenesis of the acrosome and the midpiece of the sperm tail.
Biochem Biophys Res Commun;
297(4): 737-48, 2002 Oct 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12359214
10.
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
Am J Med Genet A;
116A(1): 66-70, 2003 Jan 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12476454