Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 3

Results: 12

Front & Back Matter.

Published in:: Molecular Syndromology, 2023, v. 14, n. 3, p. 1, doi. 10.1159/000531339
Publication type:: Article

Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 201, doi. 10.1159/000528651

By:

Bilal, Muhammad;
Haack, Tobias B.;
Buchert, Rebecca;
Peralta, Susana;
Uddin, Najum;
Ali, Raja Hussain;
Liaqat, Khurram;
Ahmad, Wasim

Publication type:

Article

Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 231, doi. 10.1159/000528192

By:

Selamioğlu, Arzu;
Karaca, Meryem;
Balcı, Mehmet Cihan;
Körbeyli, Hüseyin Kutay;
Durmuş, Aslı;
Yıldız, Edibe Pembegül;
Karaman, Serap;
Gökçay, Gülden Fatma

Publication type:

Article

Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 208, doi. 10.1159/000529018

By:

Gerik-Celebi, Hamide Betul;
Aydin, Hilal;
Bolat, Hilmi;
Unsel-Bolat, Gul

Publication type:

Article

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 258, doi. 10.1159/000528769

By:

Güleray Lafcı, Naz;
Karaosmanoglu, Beren;
Taskiran, Ekim Z.;
Simsek-Kiper, Pelin Ozlem;
Utine, Gülen Eda

Publication type:

Article

The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 239, doi. 10.1159/000527785

By:

Karakaya, Taner;
Turkyilmaz, Ayberk;
Eris, Deniz;
Kaya, Mehtap;
Oksuz, Kupra;
Eryigit, Meltem Aygul;
Gönen, Gizem

Publication type:

Article

Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 254, doi. 10.1159/000527524

By:

Park, Jong Eun;
Chang, Sung-A;
Jang, Shin Yi;
Lee, Kyung Soo;
Kim, Duk-Kyung;
Ki, Chang-Seok

Publication type:

Article

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 225, doi. 10.1159/000527777

By:

Tilemis, Faidon-Nikolaos;
Marinakis, Nikolaos M.;
Kosma, Konstantina;
Fostira, Florentia;
Traeger-Synodinos, Joanne

Publication type:

Article

A Genetics Study in the Foreskin of Boys with Hypospadias.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 185, doi. 10.1159/000527405

By:

Inanc, Irem;
Avlan, Dincer;
Eker, Damla;
Gurkan, Hakan

Publication type:

Article

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 219, doi. 10.1159/000527215

By:

Mehawej, Cybel;
Chouery, Eliane;
Al Hage Chehade, Ghada;
Bejaoui, Yosra;
Mahfoud, Daniel;
Gerges, Maya;
Delague, Valérie;
El Hajj, Nady;
Megarbane, Andre

Publication type:

Article

Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 246, doi. 10.1159/000527160

By:

Anlaş, Özlem;
Ölmez, Akgün;
Karaman, Birsen;
Düzcan, Füsun;
Yüksel, Selçuk;
Tümkaya, Funda;
Bağcı, Gülseren;
Semerci Gündüz, Cavidan Nur

Publication type:

Article

Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.

Published in:

Molecular Syndromology, 2023, v. 14, n. 3, p. 191, doi. 10.1159/000527043

By:

Khan, Feroz;
Arshad, Abida;
Ullah, Asmat;
Steenackers, Ellen;
Mortier, Geert;
Ahmad, Wasim;
Arshad, Muhammad;
Khan, Sarmir;
Hayat, Amir;
Khan, Ikram;
Khan, Muhammad Asim;
Van Hul, Wim

Publication type:

Article