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1 . Academic Journal
A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing
저자
by
Gulhan Gurel
;
Muhsin Elmas
;
Basak Gogus
.
소스
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 043-047 (2022)
Open Access (DOAJ)
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5 . Academic Journal
A case of spastic paraplegia type 11 with a variation in the SPG11 gene
저자
by
Muhsin Elmas
;
Basak Gogus
;
Banu Değirmenci
;
Mustafa Solak
;
J. G. Gleeson
.
소스
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Congenital muscular dystrophy a case study with a mutation in the POMT1 gene
저자
by
Muhsin Elmas
;
Basak Gogus
;
Dilek Cavusoglu
;
Ayhan Pektas
;
Mustafa Solak
.
소스
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 2, Pp 143-146 (2019)
Open Access (DOAJ)
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7 . Academic Journal
Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.
저자
by
Muhsin Elmas
;
Basak Gogus
;
Ayse Tolunay Oflu
;
Aysegul Bukulmez
;
Ebru Elmas
, et al.
소스
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 77-80 (2019)
Open Access (DOAJ)
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7 . Academic Journal
Understanding What You Have Found: A Family With a Mutation in the Gene With Literature Review
저자
by
Muhsin Elmas
;
Basak Gogus
;
Mustafa Solak
.
소스
Clinical Medicine Insights: Case Reports, Vol 13 (2020)
Full Text (Sage OA)
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5 . Academic Journal
A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene
저자
by
Muhsin Elmas
;
Basak Gogus
.
소스
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 2, Pp 81-83 (2018)
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4 .
Investigation of Distribution of PKD1, PKD2 and GANAB Genes in Autosomal Dominant Polycystic Kidney Patients in Turkish Population
저자
by
Mujgan Ozdemir Erdogan
;
Başak Gogus
;
Handan Yildiz
;
Sinan Kazan
;
Serdar Ceylaner
, et al.
소스
Acta Scientific Medical Sciences
. :10-25
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7 .
TUBULİN-SPECİFİC CHAPERONE D (TBCD) GENİNDE YENİ BİR MUTASYON TESPİT EDİLEN PEBAT SENDROMLU OLGU
저자
by
Muhsin ELMAS
;
Başak GÖĞÜŞ
;
Ayşegül BÜKÜLMEZ
;
Mustafa SOLAK
.
소스
Kocatepe Tıp Dergisi
. 23:231-234
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6 .
The road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1
저자
by
Muhsin ELMAS
;
Başak GÖĞÜŞ
;
Elmas, Muhsin
;
Göğüş, Başak
.
소스
Volume: 8, Issue: 2 145-154
The European Research Journal
Open Access (OpenAIRE)
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6 .
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
저자
by
Muhsin Elmas
;
Basak Gogus
;
Elmas, Muhsin
;
Göğüş, Başak
.
소스
Mol Syndromol
Open Access (OpenAIRE)
Web of Science
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