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1.
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.
Cell;
2024 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38701783
2.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell;
187(2): 390-408.e23, 2024 01 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-38157855
3.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Cell;
184(14): 3812-3828.e30, 2021 07 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34214472
4.
Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.
BMC Pediatr;
22(1): 667, 2022 11 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36401200
5.
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
Ann Hum Genet;
84(1): 102-106, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31571209
6.
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
J Clin Lab Anal;
33(7): e22923, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31115957
7.
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
J Clin Immunol;
37(8): 801-810, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28993958
8.
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.
J Clin Immunol;
39(2): 138-141, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30796585
9.
Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases.
Res Pract Thromb Haemost;
7(1): 100003, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36760778
10.
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.
Iran J Allergy Asthma Immunol;
19(2): 193-199, 2020 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-32372632
11.
A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency.
Iran J Allergy Asthma Immunol;
19(1): 94-101, 2020 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32245326
12.
Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.
Mitochondrion;
46: 321-325, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30205178
13.
Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.
Int J Mol Cell Med;
8(3): 169-178, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-32489946
14.
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.
J Exp Med;
216(9): 2057-2070, 2019 09 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31270247
15.
Draft Genome Sequence of Pseudomonas gingeri Strain LMG 5327, the Causative Agent of Ginger Blotch in Agaricus bisporus.
Genome Announc;
6(13)2018 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599158
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