E-LIB Suche - Ergebnisse für: Behnam, Mahdiyeh

1

B-cells absence in patients diagnosed as inborn errors of i..:

Khoshnevisan, Razieh ; Hassanzadeh, Shakiba ; Klein, Christoph...
Immunogenetics. 76 (2024) 3 - p. 189-202 , 2024

2

Clinical, Immunological, and Genetic Findings in Iranian Pa..:

Mousavi Khorshidi, Mohadese Sadat ; Seeleuthner, Yoann ; Chavoshzadeh, Zahra...
Journal of Clinical Immunology. 43 (2023) 8 - p. 1941-1952 , 2023

Link: https://doi.org/10.1007/..

3

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Irani..:

Dehghan, Roghayeh ; Behnam, Mahdiyeh ; Salehi, Mansoor..
Case Reports in Ophthalmological Medicine. 2022 (2022) - p. 1-6 , 2022

Link: https://doi.org/10.1155/..

4

Molecular genetic analysis of the insulin gene variants in ..:

Hashemipour, Mahin ; Mostofizadeh, Neda ; Ghasemi, Mohammadmehdi...
International Journal of Diabetes in Developing Countries. 43 (2022) 5 - p. 821-828 , 2022

Link: https://doi.org/10.1007/..

5

Causative variants linked with limb girdle muscular dystrop..:

Mianesaz, Hamidreza ; Ghalamkari, Safoura ; Salehi, Mansoor...
Molecular Genetics & Genomic Medicine. 11 (2022) 2 - p. , 2022

Link: https://doi.org/10.1002/..

6

Sirenomelia: two case reports:

Shojaee, Asiyeh ; Ronnasian, Firooze ; Behnam, Mahdiyeh.
Journal of Medical Case Reports. 15 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

7

A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Pat..:

Dehghan, Roghayeh ; Behnam, Mahdiyeh ; Moafi, Alireza..
Case Reports in Immunology. 2021 (2021) - p. 1-3 , 2021

Link: https://doi.org/10.1155/..

8

Novel EXOSC9 variants cause pontocerebellar hypoplasia type..:

Sakamoto, Masamune ; Iwama, Kazuhiro ; Sekiguchi, Futoshi...
Journal of Human Genetics. 66 (2020) 4 - p. 401-407 , 2020

Link: https://doi.org/10.1038/..

9

A homozygous NOP14 variant is likely to cause recurrent pre..:

Suzuki, Toshifumi ; Behnam, Mahdiyeh ; Ronasian, Firooze...
Journal of Human Genetics. 63 (2018) 4 - p. 425-430 , 2018

Link: https://doi.org/10.1038/..

10

Novel EYA1 variants causing Branchio-oto-renal syndrome:

Klingbeil, Kyle D. ; Greenland, Christopher M. ; Arslan, Selcuk...
International Journal of Pediatric Otorhinolaryngology. 98 (2017) - p. 59-63 , 2017

Link: https://doi.org/10.1016/..

11

Mutation spectrum and haplotype study of mucopolysaccharido..:

Martins, Carla ; de Medeiros, Paula Frassinetti ; Leistner-Segal, Sandra...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S92 , 2017

Link: https://doi.org/10.1016/..

12

Association of AHSG with alopecia and mental retardation (A..:

Reza Sailani, M. ; Jahanbani, Fereshteh ; Nasiri, Jafar...
Human Genetics. 136 (2017) 3 - p. 287-296 , 2017

Link: https://doi.org/10.1007/..

13

Spectrum of DNA variants for non-syndromic deafness in a la..:

Yan, Denise ; Tekin, Demet ; Bademci, Guney...
Human Genetics. 135 (2016) 8 - p. 953-961 , 2016

Link: https://doi.org/10.1007/..

14

Prevalence of 22q11.2 microdeletion syndrome in Iranian pat..:

Abdali, Hossein ; Nouri, Narges ; Memarzadeh, Mehrdad...
Advanced Biomedical Research. 5 (2016) 1 - p. 201 , 2016

Link: https://doi.org/10.4103/..

15

Two novel homozygous RAB3GAP1 mutations cause Warburg micro..:

Imagawa, Eri ; Fukai, Ryoko ; Behnam, Mahdiyeh...
Human Genome Variation. 2 (2015) 1 - p. , 2015

Link: https://doi.org/10.1038/..