Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 5

Results: 10

Front & Back Matter.

Published in:: Molecular Syndromology, 2023, v. 14, n. 5, p. 1, doi. 10.1159/000534404
Publication type:: Article

Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 363, doi. 10.1159/000530513

By:

Bora, Elcin;
Yıldız Bulut, Ayca;
Cankaya, Tufan;
Cinleti, Tayfun;
Genç, Halise Zeynep;
Ozcan, Emin Evren;
Ozpelit, Ebru;
Ulgenalp, Ayfer;
Caglayan, Ahmet Okay

Publication type:

Article

Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 394, doi. 10.1159/000530252

By:

Kubota, Noriko;
Takeda, Ryojun;
Kobayashi, Jun;
Hidaka, Eiko;
Nishi, Eriko;
Takano, Kyoko;
Wakui, Keiko

Publication type:

Article

Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 375, doi. 10.1159/000530173

By:

Bouatrous, Emna;
Nouira, Sonia;
Menif, Samia;
Ouragini, Houyem

Publication type:

Article

VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 449, doi. 10.1159/000530150

By:

Bogue, Danielle;
Ryan, Gavin;
Wassmer, Evangeline;
Naik, Swati

Publication type:

Article

Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 428, doi. 10.1159/000530118

By:

Uzunyayla-Inci, Gozde;
Kiykim, Ertugrul;
Zubarioglu, Tanyel;
Yeşil, Gözde;
AKTUGLU ZEYBEK, CIGDEM

Publication type:

Article

Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 416, doi. 10.1159/000529807

By:

Cárdenas, José Miguel;
Vergara, Diane;
Witting, Scarlet;
Balut, Fernanda;
Guerra, Patricio;
Mesa, José Tomás;
Silva, Sebastián;
Tello, Javiera;
Retamales, Alvaro;
Barrios, Andrés;
Pinto, Fernando;
Faundes, Víctor;
Troncoso, Mónica

Publication type:

Article

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 405, doi. 10.1159/000529678

By:

Ghasemi, Aida;
Tavasoli, Ali Reza;
Khojasteh, Mana;
Rohani, Mohammad;
Alavi, Afagh

Publication type:

Article

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 433, doi. 10.1159/000529408

By:

Rosti, Giulia;
Boeri, Silvia;
Divizia, Maria Teresa;
Pisciotta, Livia;
Mancardi, Maria Margherita;
Lerone, Margherita;
Cerminara, Maria;
Servetti, Martina;
Spirito, Giovanni;
Vozzi, Diego;
Fontana, Marco;
Gustincich, Stefano;
Nobili, Lino;
Zara, Federico;
Puliti, Aldamaria

Publication type:

Article

Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.

Published in:

Molecular Syndromology, 2023, v. 14, n. 5, p. 439, doi. 10.1159/000528744

By:

Trizuljak, Jakub;
Duben, Jakub;
Blaháková, Ivona;
Vrzalová, Zuzana;
Kozubík, Kateřina Staňo;
Štika, Jiří;
Radová, Lenka;
Bergerová, Veronika;
Mejstříková, Soňa;
Hořínová, Věra;
Jancalek, Radim;
Pospíšilová, Šárka;
Doubek, Michael

Publication type:

Article