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1.
Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.
Biochem Genet
; 2024 Feb 26.
Article
in English
| MEDLINE | ID: mdl-38407766
2.
Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.
BMC Med Genet
; 21(1): 33, 2020 02 14.
Article
in English
| MEDLINE | ID: mdl-32059713
3.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Article
in English
| MEDLINE | ID: mdl-31081514
4.
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Neurol Sci
; 39(11): 1917-1925, 2018 Nov.
Article
in English
| MEDLINE | ID: mdl-30128655
5.
The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women.
BMC Med Genomics
; 17(1): 24, 2024 Jan 18.
Article
in English
| MEDLINE | ID: mdl-38238750
6.
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
bioRxiv
; 2024 Jan 09.
Article
in English
| MEDLINE | ID: mdl-38260472
7.
Corrigendum to "Evaluation of NF1 and RASA1 gene expression in endometriosis" [Eur J Obstetr Gynecol Reprod Biol X 15 (2022) 100152].
Eur J Obstet Gynecol Reprod Biol X
; 17: 100173, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36506347
8.
Evaluation of the relationship between miR-1271 and GRB2 gene in endometriosis.
Eur J Obstet Gynecol Reprod Biol
; 277: 12-15, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35970002
9.
GGPS1-associated muscular dystrophy with and without hearing loss.
Ann Clin Transl Neurol
; 9(9): 1465-1474, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35869884
10.
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
Eur J Hum Genet
; 29(3): 411-421, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33168985
11.
Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity.
Eur J Med Genet
; 61(8): 465-467, 2018 Aug.
Article
in English
| MEDLINE | ID: mdl-29545012
12.
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Genome Med
; 9(1): 118, 2017 12 22.
Article
in English
| MEDLINE | ID: mdl-29273094
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