Skip Nav Destination
Endocrinology
Original Article
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
Available to Purchase
Gamze Sarıkaya Uzan; Ceren Yılmaz Uzman; Tayfun Çinleti; Çağatay Günay; Ayfer Ülgenalp; Semra Hiz Kurul; Uluç Yiş
Original Article
A Deeper Insight into COL4A3 , COL4A4 , and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
Available to Purchase
Cüneyd Yavaş; Nehir Ozdemir Ozgenturk; Mustafa Dogan; Alper Gezdirici; Ece Keskin; Ezgi Gokpınar İli; Tunay Dogan; Evrim Celebi; Onur Bender; Cemal Un
Original Article
Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders
Available to Purchase
Hamide Betul Gerik-Celebi; Gul Unsel-Bolat; Hilmi Bolat
Original Article
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2
Available to Purchase
Nahid Vafaei; Ali Mohebbi; Zahra Rezaei; Morteza Heidari; Sareh Hosseinpour; Ali Zare Dehnavi; Azin Ghamari; Masoud Salehipour; Ali Rabbani; Nejat Mahdieh; Mahmoud Reza Ashrafi
Original Article
Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population
Available to Purchase
Haibo Tan; Zhixue Wang; Jiaxuan Zhang; Maohua Huang; Jide Chen; Fengqi Li; Liangjun Tang
Commentary
Burcu Civelek Ürey; Ahmet Cevdet Ceylan; Büşranur Cavdarlı; Ayşegül Neşe Çıtak Kurt; Oya Kıreker Köylü; Burak Yürek; Çiğdem Seher Kasapkara
Original Article
TRAPPC9 -Related Intellectual Disability: Report of Two New Cases and Review of the Literature
Available to Purchase
Eyyup Uctepe; Ahmet Yesilyurt; Fatma Nisa Esen; Sait Tümer; Hanifenur Mancılar; Fatma Mujgan Sonmez
Editorial - Late Breaking Chromosomes
Martin Poot
Original Article
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
Available to Purchase
Aida Ghasemi; Zahra Sadr; Mojgan Babanejad; Mohammad Rohani; Afagh Alavi
Commentary
Josef Finsterer
Original Article
Naoto Sugeno; Takafumi Hasegawa; Kazuhiro Haginoya; Takafumi Kubota; Kensuke Ikeda; Takaaki Nakamura; Shun Ishiyama; Kazuki Sato; Shun Yoshida; Eriko Koshimizu; Mitsugu Uematsu; Satoko Miyatake; Naomichi Matsumoto; Masashi Aoki
Original Article
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation
Available to Purchase
Muhammad Bilal; Tobias B. Haack; Rebecca Buchert; Susana Peralta; Imtiaz Ahmad; Faisal; Sanaullah Abbasi; Wasim Ahmad
Original Article
Lisca Florence Wurfbain; Inge Lucia Cox; Maria Francisca van Dooren; Augusta Maria Antonia Lachmeijer; Virginie Johanna Maria Verhoeven; Johanna Maria van Hagen; Malou Heijligers; Jolien Sietske Klein Wassink - Ruiter; Saskia Koene; Saskia Mariska Maas; Hermine Elisabeth Veenstra - Knol; Johannes Kristian Ploos van Amstel; Maarten Pieter Gerrit Massink; Aebele Barber Mink van der Molen; Marie-José Henriette van den Boogaard
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature
Open Access
Arzu Selamioğlu; Meryem Karaca; Mehmet Cihan Balcı; Hüseyin Kutay Körbeyli; Aslı Durmuş; Edibe Pembegül Yıldız; Serap Karaman; Gülden Fatma Gökçay
Jong Eun Park; Sung-A Chang; Shin Yi Jang; Kyung Soo Lee; Duk-Kyung Kim; Chang-Seok Ki
A Genetics Study in the Foreskin of Boys with Hypospadias
Available to Purchase
Irem Inanc; Dincer Avlan; Damla Eker; Hakan Gurkan
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
Available to Purchase
Hamide Betul Gerik-Celebi; Hilal Aydin; Hilmi Bolat; Gul Unsel-Bolat
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
Available to Purchase
Naz Güleray Lafcı; Beren Karaosmanoglu; Ekim Z. Taskiran; Pelin Ozlem Simsek-Kiper; Gülen Eda Utine
