Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 6

Results: 15

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 509, doi. 10.1159/000531429

By:

Kocagil, Sinem;
Şafak, İkbal Nur;
Saraç, Elif;
Aydın, Can;
Artan, Sevilhan;
Kırel, Birgül

Publication type:

Article

Contents Vol. 14, 2023.

Published in:: Molecular Syndromology, 2023, v. 14, n. 6, p. 531, doi. 10.1159/000535256
Publication type:: Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2023, v. 14, n. 6, p. 1, doi. 10.1159/000535673
Publication type:: Article

Acknowledgement to Reviewers.

Published in:: Molecular Syndromology, 2023, v. 14, n. 6, p. 530, doi. 10.1159/000534746
Publication type:: Article

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 523, doi. 10.1159/000531715

By:

Rafat, Karima;
Abdel-Hamid, Mohamed S.;
Abdel-Salam, Ghada M.H.

Publication type:

Article

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 516, doi. 10.1159/000531566

By:

Roudbari, Faranak;
Dallal Amandi, Amir-Reza;
Bonyadi, Mortaza;
Sadeghi, Leyla;
Jabbarpour, Neda

Publication type:

Article

Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 477, doi. 10.1159/000531507

By:

Ghasemi, Aida;
Sadr, Zahra;
Babanejad, Mojgan;
Rohani, Mohammad;
Alavi, Afagh

Publication type:

Article

SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 457, doi. 10.1159/000531506

By:

Finsterer, Josef

Publication type:

Article

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 485, doi. 10.1159/000531439

By:

Uctepe, Eyyup;
Yesilyurt, Ahmet;
Esen, Fatma Nisa;
Tümer, Sait;
Mancılar, Hanifenur;
Sonmez, Fatma Mujgan

Publication type:

Article

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 459, doi. 10.1159/000531668

By:

Civelek Ürey, Burcu;
Ceylan, Ahmet Cevdet;
Cavdarlı, Büşranur;
Çıtak Kurt, Ayşegül Neşe;
Kıreker Köylü, Oya;
Yürek, Burak;
Kasapkara, Çiğdem Seher

Publication type:

Article

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 504, doi. 10.1159/000531408

By:

Eser, Hatice Ceren;
Ayyildiz Emecen, Durdugul;
Topyildiz, Ezgi;
Isik, Esra;
Edeer Karaca, Neslihan;
Atik, Tahir;
Aksu, Guzide;
Ozkinay, Ferda;
Kutukculer, Necil

Publication type:

Article

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 469, doi. 10.1159/000531069

By:

Bilal, Muhammad;
Haack, Tobias B.;
Buchert, Rebecca;
Peralta, Susana;
Ahmad, Imtiaz;
Faisal;
Abbasi, Sanaullah;
Ahmad, Wasim

Publication type:

Article

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 498, doi. 10.1159/000530798

By:

Esen, Tuna Eren;
Uzun, Özlem Ünal;
Ceylan, Ahmet Cevdet

Publication type:

Article

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 461, doi. 10.1159/000530625

By:

Sugeno, Naoto;
Hasegawa, Takafumi;
Haginoya, Kazuhiro;
Kubota, Takafumi;
Ikeda, Kensuke;
Nakamura, Takaaki;
Ishiyama, Shun;
Sato, Kazuki;
Yoshida, Shun;
Koshimizu, Eriko;
Uematsu, Mitsugu;
Miyatake, Satoko;
Matsumoto, Naomichi;
Aoki, Masashi

Publication type:

Article

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.

Published in:

Molecular Syndromology, 2023, v. 14, n. 6, p. 493, doi. 10.1159/000530586

By:

Cesaroni, Carlo Alberto;
Spagnoli, Carlotta;
Baga, Margherita;
Rizzi, Susanna;
Frattini, Daniele;
Caraffi, Stefano Giuseppe;
Pollazzon, Marzia;
Garavelli, Livia;
Fusco, Carlo

Publication type:

Article