Works matching IS 16618769 AND DT 2025 AND VI 16 AND IP 2

Results: 11

Front & Back Matter.

Published in:: Molecular Syndromology, 2025, v. 16, n. 2, p. 1, doi. 10.1159/000545688
Publication type:: Article

Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 180, doi. 10.1159/000541501

By:

Bahar Ister, Meral;
Cinar, Muge;
Ceylaner, Serdar;
Uzun, Ozlem Unal

Publication type:

Article

A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 187, doi. 10.1159/000541476

By:

Ünsal, Yağmur;
Yıldırım, Nalan;
Buluş, Ayşe Derya;
Kılıç, Esra

Publication type:

Article

A Novel Loss of Function Variant in HCN1 Gene Underlies Early Infantile Epileptic Encephalopathy 24 [EIEE24].

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 152, doi. 10.1159/000541117

By:

Mujahid;
Waqas, Ahmed;
Almazni, Ibrahim A.;
Zaman, Gohar;
Alam, Qamre;
Eid, Thamir M.;
Alanazi, Mohammad A.;
Hamadi, Abdullah;
Afsar, Tayyaba;
Razak, Suhail;
Umair, Muhammad

Publication type:

Article

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 138, doi. 10.1159/000540925

By:

Kasapkara, Çiğdem Seher;
Civelek Ürey, Burcu;
Bilginer Gürbüz, Berrak;
Küçükçongar Yavaş, Aynur;
Keçeli, Avni Merter;
Öncül, Ümmühan;
Gündüz, Mehmet;
Biberoğlu, Gürsel;
Çıtak Kurt, Ayşegül Neşe;
Gürkaş, Esra;
Kılıç, Esra;
Güleç Ceylan, Gülay;
Özbek, Namık Yaşar

Publication type:

Article

Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 171, doi. 10.1159/000540923

By:

Colak, Yavuzhan;
Yilmaz, Mustafa;
Ozkan Kart, Pinar;
Terali, Kerem;
Turkyilmaz, Ayberk;
Cansu, Ali

Publication type:

Article

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 128, doi. 10.1159/000540898

By:

Duymus, Fahrettin;
Kocak, Nadir;
Özdemir, Ebru Marzioğlu;
Esin, Deniz;
Körez, Muslu Kazim;
Cora, Tülün

Publication type:

Article

Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 194, doi. 10.1159/000540786

By:

Linnenkamp, Bianca Domit Werner;
Pires, Lucas Vieira Lacerda;
Stephan, Bruno de Oliveira;
Vilalva, Kelvin Henrique;
Lombardi Peres de Carvalho, Mariana;
Vicente Pereira Lipari, Layara Fernanda;
Fernandes, Fabio;
Krieger, Jose Eduardo

Publication type:

Article

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 99, doi. 10.1159/000540599

By:

Türkyılmaz, Ayberk;
Sağer, Safiye Güneş;
Caliskan, Emine;
Akçay, Merve;
Demir, Oğuzhan;
Baytar, Baran;
Akın, Yasemin

Publication type:

Article

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 165, doi. 10.1159/000540570

By:

Pires, Lucas Vieira Lacerda;
Da Cás, Eduardo;
de Melo, Letícia Cole;
Nakaie, Cleyde Mirian Aversa;
Aiello, Vera Dermachi;
Yamamoto, Guilherme Lopes;
Honjo, Rachel Sayuri;
Kim, Chong Ae;
Bertola, Débora Romeo

Publication type:

Article

Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis.

Published in:

Molecular Syndromology, 2025, v. 16, n. 2, p. 115, doi. 10.1159/000540762

By:

Ozturk, Ozden;
Ozturk, Murat;
Ates, Kubra;
Esener, Zeynep;
Erguven, Naile Nisa;
Ozgor, Bilge;
Gungor, Serdal;
Sigirci, Ahmet;
Tekedereli, Ibrahim

Publication type:

Article