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1.
The tubulin code in mammalian sperm development and function.
Semin Cell Dev Biol
; 137: 26-37, 2023 03 15.
Artículo
Inglés
| MEDLINE | ID: mdl-35067438
2.
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Scand J Immunol
; 95(4): e13136, 2022 Apr.
Artículo
Inglés
| MEDLINE | ID: mdl-34964150
3.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
J Allergy Clin Immunol
; 146(4): 901-911, 2020 10.
Artículo
Inglés
| MEDLINE | ID: mdl-32278790
4.
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.
Nucleic Acids Res
; 45(W1): W567-W572, 2017 07 03.
Artículo
Inglés
| MEDLINE | ID: mdl-28520890
5.
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Br J Haematol
; 182(2): 251-258, 2018 07.
Artículo
Inglés
| MEDLINE | ID: mdl-29797310
6.
Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
Klin Padiatr
; 229(3): 113-117, 2017 May.
Artículo
Inglés
| MEDLINE | ID: mdl-28561224
7.
Sec16 determines the size and functioning of the Golgi in the protist parasite, Trypanosoma brucei.
Traffic
; 15(6): 613-29, 2014 Jun.
Artículo
Inglés
| MEDLINE | ID: mdl-24612401
8.
NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.
J Clin Immunol
; 36(6): 533-40, 2016 08.
Artículo
Inglés
| MEDLINE | ID: mdl-27338827
9.
Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.
J Clin Immunol
; 35(6): 523-6, 2015 Aug.
Artículo
Inglés
| MEDLINE | ID: mdl-26233237
10.
WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.
Blood
; 130(17): 1949-1953, 2017 10 26.
Artículo
Inglés
| MEDLINE | ID: mdl-28903942
11.
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
J Allergy Clin Immunol
; 135(5): 1384-90.e1-8, 2015 May.
Artículo
Inglés
| MEDLINE | ID: mdl-25539626
12.
Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.
Haematologica
; 100(6): e216-9, 2015 Jun.
Artículo
Inglés
| MEDLINE | ID: mdl-25769540
13.
RAF dimers control vascular permeability and cytoskeletal rearrangements at endothelial cell-cell junctions.
FEBS J
; 286(12): 2277-2294, 2019 06.
Artículo
Inglés
| MEDLINE | ID: mdl-30828992
14.
Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.
Case Reports Immunol
; 2016: 5459029, 2016.
Artículo
Inglés
| MEDLINE | ID: mdl-27699073
15.
LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.
Acta Med Iran
; 54(10): 620-623, 2016 Oct.
Artículo
Inglés
| MEDLINE | ID: mdl-27888588
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