Detalhe da pesquisa
1.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Am J Hum Genet
; 90(2): 369-77, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22305528
2.
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Epilepsia
; 53(8): 1387-98, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22612257
3.
Validation of a multi-residue method for the determination of several antibiotic groups in honey by LC-MS/MS.
Anal Bioanal Chem
; 403(10): 2943-53, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22367248
4.
Validated determination of eight antibiotic substance groups in cattle and pig muscle by HPLC/MS/MS.
J AOAC Int
; 94(2): 407-19, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21563673
5.
Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients.
Am J Med Genet A
; 152A(6): 1398-410, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503314
6.
Validation of a method for the determination of triphenylmethane dyes in trout and shrimp with superior extraction efficiency.
Food Addit Contam Part A Chem Anal Control Expo Risk Assess
; 37(1): 84-93, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31697217
7.
Directed overexpression of insulin in Leydig cells causes a progressive loss of germ cells.
Mol Cell Endocrinol
; 295(1-2): 79-86, 2008 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18692115
8.
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
Hum Mutat
; 28(8): 830, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17623483
9.
Preparation and characterisation of in-house reference material of tylosin in honey and results of a proficiency test.
Anal Chim Acta
; 700(1-2): 58-62, 2011 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21742117
10.
An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.
J Child Neurol
; 26(1): 113-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21212457
11.
Confirmatory method for the determination of streptomycin in apples by LC-MS/MS.
Anal Chim Acta
; 672(1-2): 103-6, 2010 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20579497
12.
TSPY expression is variably altered in transgenic mice with testicular feminization.
Biol Reprod
; 79(1): 125-33, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18401008
13.
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Nat Genet
; 40(3): 287-9, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18297069
14.
Premature translation of transition protein 2 mRNA causes sperm abnormalities and male infertility.
Mol Reprod Dev
; 74(3): 273-9, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16967499
15.
Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.
Am J Med Genet A
; 143A(10): 1091-9, 2007 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17431920
16.
Asthenoteratozoospermia in mice lacking testis expressed gene 18 (Tex18).
Mol Hum Reprod
; 13(3): 155-63, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17208930
17.
Disruption of PLC-beta 1-mediated signal transduction in mutant mice causes age-dependent hippocampal mossy fiber sprouting and neurodegeneration.
Mol Cell Neurosci
; 21(4): 584-601, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12504592