Publications by authors named "Muhsin Elmas"

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DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients.
Hajira Karim, Lima Oria, Aslı Güner Öztürk Demir, Muhsin Elmas, Amogh Verma

Clin Med Insights Case Rep· October 2025

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Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Gulcin Akinci, Berk Ozyilmaz, Gulten Ozturk, Mustafa Komur, Ece Onel, Muhsin Elmas

Neuromuscul Disord· August 2025

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Whole exome-based variant profiling and functional network characterization in neural tube defects.
Nermin Akcali, Saliha Handan Yildiz, Mujgan Ozdemir Erdogan, Sajjad Eslamkhah, Muhsin Elmas

Childs Nerv Syst· July 2025

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H syndrome with bilateral choroidal osteoma: Coincidence or association?
Ayna Sariyeva Ismayilov, Derya Doğanay, Mahmut Oğuz Ulusoy, Okan Akacı, Ali Topak, Muhsin Elmas

Eur J Ophthalmol· March 2025

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Genetic aspects of ataxias in a cohort of Turkish patients.
Basak Gogus, Muhsin Elmas, Ulku Turk Boru

Neurol Sci· September 2024

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A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.
Dilek Cavusoglu, Melis Kose, Esra Er, Muhsin Elmas, Pinar Gencpinar

Brain Dev· October 2022

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Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience.
Muhsin Elmas, Umit Can Yildirim

J Pediatr Genet· June 2022

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Muhsin Elmas

Funct Integr Genomics· June 2022

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Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.
Elmas Muhsin, Gogus Basak, Degirmenci Banu, Gezdirici Alper, Solak Mustafa

J Mol Neurosci· January 2022

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Muhsin Elmas

Am J Hum Genet· October 2021

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The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Atay Vural, Gülşah Şimşir, Şeyma Tekgül, Cemile Koçoğlu, Fulya Akçimen, Muhsin Elmas

Mov Disord· July 2021

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Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.
Muhsin Elmas, Basak Gogus, Furkan Kılıçarslan, Aysegul Bukulmez, Mustafa Solak

J Pediatr Genet· March 2021

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Understanding What You Have Found: A Family With a Mutation in the Gene With Literature Review.
Muhsin Elmas, Basak Gogus, Mustafa Solak

Clin Med Insights Case Rep· August 2020

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Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Muhsin Elmas, Basak Gogus

Mol Syndromol· February 2020

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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Davut Pehlivan, Yavuz Bayram, Nilay Gunes, Zeynep Coban Akdemir, Anju Shukla, Muhsin Elmas

Am J Hum Genet· July 2019

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Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses.
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir

Eklem Hastalik Cerrahisi· August 2017

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Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
Mehtap Beker-Acay, Muhsin Elmas, Resit Koken, Ebru Unlu, Aysegul Bukulmez

Pol J Radiol· March 2016

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First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis?
Reşat Duman, Nilay Duman, Muhsin Elmas, Güliz Fatma Yavaş

Clin Dysmorphol· January 2016

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Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome.
Tuncer Ahmet Ali, Karavelioğlu Afra, Baskin Embleton Didem, Elmas Muhsin

J Indian Assoc Pediatr Surg· January 2016

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Dermoscopy of cutaneous neurofibromas associated with neurofibromatosis type 1.
Nilay Duman, Muhsin Elmas

J Am Acad Dermatol· September 2015

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A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.
Mehmet Nuri Konya, Muhsin Elmas, Sadık Emre Erginoğlu, Murat Yeşil

Int J Surg Case Rep· February 2015

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46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male.
Serap T Onrat, Zafer Söylemez, Muhsin Elmas

Indian J Hum Genet· May 2012

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