Works matching IS 16618769 AND DT 2024 AND VI 15 AND IP 6

Results: 16

Front & Back Matter.

Published in:: Molecular Syndromology, 2024, v. 15, n. 6, p. 1, doi. 10.1159/000542970
Publication type:: Article

Acknowledgement to Reviewers.

Published in:: Molecular Syndromology, 2024, v. 15, n. 6, p. 547, doi. 10.1159/000542125
Publication type:: Article

Erratum.

Published in:: 2024
Publication type:: Correction Notice

Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 537, doi. 10.1159/000539400

By:

Srividhya, Durbagula;
Parambath, Snijesh Valiya;
Sathyanarayanan, Ranganayaki;
Huligerepura Sosalegowda, Aparna;
Korlimarla, Aruna;
Niranjana Murthy, Ashitha S.;
Prabhakaran, Nishant;
Vijayanand, Meghana;
Gowda, Naveen Kumar Chandappa

Publication type:

Article

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 474, doi. 10.1159/000539364

By:

Emam, Bayoumi A.;
Abdel-Hamid, Mohamed S.;
Eid, Maha;
Girgis, Marian;
Ragab, Omar A.;
Zaki, Maha S.;
El-Kiki, Hassan;
Abdel-Hady, Sawsan;
Abdel-Salam, Ghada M.H.

Publication type:

Article

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 531, doi. 10.1159/000539280

By:

Ciki, Kismet;
Alavanda, Ceren

Publication type:

Article

A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 443, doi. 10.1159/000539279

By:

Javed Khan, Muhammad;
Abdullah;
Khan, Hammal;
Zaman, Atteaya;
Ahmed, Sohail;
Iqbal, Palwasha;
Bilal, Muhammad;
Ullah, Kifayat;
Hasni, Muhammad Sharif;
Ullah, Imran;
Mis, Emily Kathryn;
Lakhani, Saquib Ali;
Ahmad, Wasim

Publication type:

Article

Investigation of Genetic Changes in Three Families with Bipolar Disease.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 464, doi. 10.1159/000539115

By:

Çolak-Geniş, Esra;
Özdemir Erdoğan, Müjdan;
Çam, Fethi Sırrı;
Aydemir, Ömer;
Akin, Funda;
Gerik-Celebi, Hamide Betül;
Solak, Mustafa

Publication type:

Article

Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 503, doi. 10.1159/000539099

By:

Pal, Swasti;
Kulshrestha, Samarth;
Garg, Neha;
Gupta, Deepti;
Gupta, Nandita Dimri;
Puri, Ratna Dua

Publication type:

Article

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 450, doi. 10.1159/000539034

By:

Doğulu, Neslihan;
Köse, Engin;
Ceylaner, Serdar;
Kasapkara, Çiğdem Seher;
Bozaci, Ayşe Ergul;
Oncul, Ummuhan;
Eminoğlu, Fatma Tuba

Publication type:

Article

Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 495, doi. 10.1159/000538979

By:

Chen, Na;
Zeng, Wenshan;
Luo, Yuqin;
Dong, Minyue

Publication type:

Article

RMND1 Mutation Case Report and Literature Review.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 487, doi. 10.1159/000538930

By:

Bayrak, Harun;
Sezer, Abdullah;
Kılıç, Mustafa

Publication type:

Article

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 517, doi. 10.1159/000538917

By:

Rahmuni, Yasmina;
El Kadiri, Youssef;
Lyahyai, Jaber;
Birouk, Nezha;
Nesnassi, Mounir;
Sefiani, Abdelaziz;
Ratbi, Ilham

Publication type:

Article

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 481, doi. 10.1159/000538900

By:

Caliskan, Emine;
Sager, Safiye Gunes;
Ayaz, Akif;
Teralı, Kerem;
Gunbey, Hediye Pinar

Publication type:

Article

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 523, doi. 10.1159/000538012

By:

de Oliveira-Sobrinho, Ruy Pires;
Vieira, Társis Paiva;
Steiner, Carlos Eduardo

Publication type:

Article

Erratum.

Published in:: 2024
Publication type:: Correction Notice