Detalhe da pesquisa
1.
Exploring the host factors affecting asymptomatic Plasmodium falciparum infection: insights from a rural Burkina Faso study.
Malar J
; 22(1): 252, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658365
2.
How to Detect Isolated PEX10-Related Cerebellar Ataxia?
Neuropediatrics
; 53(3): 159-166, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038753
3.
Description of Hb Évora (HBA2: c.106T>C) on an Unexpected Allele in a Swiss Family.
Hemoglobin
; 45(5): 314-317, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35114882
4.
Combinatorial Gene Regulatory Functions Underlie Ultraconserved Elements in Drosophila.
Mol Biol Evol
; 33(9): 2294-306, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27247329
5.
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Am J Hum Genet
; 93(6): 1001-14, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239381
6.
Alternative splicing in Drosophila neuronal development.
J Neurogenet
; 28(3-4): 199-215, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24957133
7.
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
J Allergy Clin Immunol
; 131(3): 825-30, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23158016
8.
Distinct regulatory programs establish widespread sex-specific alternative splicing in Drosophila melanogaster.
RNA
; 17(3): 453-68, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21233220
9.
Barakat syndrome diagnosed decades after initial presentation.
Endocrinol Diabetes Metab Case Rep
; 2023(4)2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38116790
10.
Large deletions in the NSDHL gene in two patients with CHILD syndrome.
Acta Derm Venereol
; 95(8): 1007-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014843
11.
A simple molecular complex mediates widespread BMP-induced repression during Drosophila development.
Dev Cell
; 7(2): 229-40, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15296719
12.
DNA recognition by the brinker repressor--an extreme case of coupling between binding and folding.
J Mol Biol
; 361(4): 659-72, 2006 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-16876822
13.
Sex-Specific Transcript Diversity in the Fly Head Is Established during Pupal Stages and Adulthood and Is Largely Independent of the Mating Process and the Germline.
Sex Dev
; 11(2): 94-108, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28273663
14.
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Orphanet J Rare Dis
; 9: 113, 2014 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25332050
15.
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Eur J Med Genet
; 56(12): 689-94, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24120487
16.
Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex.
J Invest Dermatol
; 137(10): 2231-2234, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28576738
17.
A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.
Clin Dysmorphol
; 24(3): 115-7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25563821
18.
Decrypting the genome's alternative messages.
Curr Opin Cell Biol
; 21(3): 377-86, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19307111
19.
Global analysis of alternative splicing regulation by insulin and wingless signaling in Drosophila cells.
Genome Biol
; 10(1): R11, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19178699
20.
Genome-wide analysis of alternative pre-mRNA splicing.
J Biol Chem
; 283(3): 1229-33, 2008 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-18024428