Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 2

Results: 14

Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 164, doi. 10.1159/000528201

By:

Çavdartepe, Büşra Eser;
İpek, Rojan

Publication type:

Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2023, v. 14, n. 2, p. 1, doi. 10.1159/000530481
Publication type:: Article

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 152, doi. 10.1159/000527955

By:

Turgut, G. Tutku;
Kalelioglu, Ibrahim Halil;
Karaman, Volkan;
Sarac Sivrikoz, Tugba;
Karaman, Birsen;
Uyguner, Zehra Oya;
Kalayci, Tugba

Publication type:

Article

Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 171, doi. 10.1159/000527538

By:

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

Publication type:

Article

Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 158, doi. 10.1159/000527424

By:

Agazzi, Cristiana;
Magliozzi, Monia;
Iacoviello, Onofrio;
Palladino, Stefano;
Delvecchio, Maurizio;
Masciopinto, Maristella;
Galati, Alessio;
Novelli, Antonio;
Causio, Francesco Andrea;
Zampino, Giuseppe;
Ruggiero, Claudia;
Fischetto, Rita

Publication type:

Article

The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 181, doi. 10.1159/000527221

By:

Buyukdogan, Murat;
Hancer, Veysel Sabri;
Sucak, Ayhan

Publication type:

Article

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 175, doi. 10.1159/000527149

By:

Demir, Şenol;
Alavanda, Ceren;
Yeşil, Gözde;
Aslanger, Ayça Dilruba;
Ateş, Esra Arslan

Publication type:

Article

Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 129, doi. 10.1159/000524832

By:

Sanrı, Aslıhan;
Demir, Selma;
Gurkan, Hakan

Publication type:

Article

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 143, doi. 10.1159/000526975

By:

Corona-Rivera, Jorge Román;
Zenteno, Juan Carlos;
López-Pérez, Leopoldo Gildardo;
Yokoyama-Rebollar, Emiy;
Villarroel, Camilo E.;
Barragán-Arévalo, Tania;
Montes-Almanza, Luis Ángel;
Zepeda-Romero, Luz Consuelo;
Morales-Domínguez, Guadalupe Elena;
Peña-Padilla, Christian;
Bobadilla-Morales, Lucina;
Corona-Rivera, Alfredo

Publication type:

Article

A Case of Short Stature Caused by a Mutation in the ACAN Gene.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 123, doi. 10.1159/000526166

By:

Karatas, Emine;
Demir, Mikail;
Ozcelik, Firat;
Kara, Leyla;
Akyurek, Esra;
Berber, Ugur;
Hatipoglu, Nihal;
Ozkul, Yusuf;
Dundar, Munis

Publication type:

Article

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 101, doi. 10.1159/000526022

By:

Dubucs, Charlotte;
Aziza, Jacqueline;
Sartor, Agnès;
Heitz, François;
Sevely, Annick;
Sternberg, Damien;
Jardel, Claude;
Cavallé-Garrido, Tiscar;
Albrecht, Steffen;
Bernard, Chantal;
De Bie, Isabelle;
Chassaing, Nicolas

Publication type:

Article

Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 89, doi. 10.1159/000526021

By:

Hamlett, Eric D.;
Flores-Aguilar, Lisi;
Handen, Benjamin;
Potier, Marie-Claude;
Granholm, Ann-Charlotte;
Sherman, Stephanie;
Puig, Victoria;
Santoro, Jonathan D.;
Carmona-Iragui, María;
Rebillat, Anne-Sophie;
Head, Elizabeth;
Strydom, André;
Busciglio, Jorge

Publication type:

Article

Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 109, doi. 10.1159/000525976

By:

Szalai, Renata;
Till, Agnes;
Szabo, Andras;
Melegh, Bela;
Hadzsiev, Kinga;
Czako, Marta

Publication type:

Article

A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.

Published in:

Molecular Syndromology, 2023, v. 14, n. 2, p. 136, doi. 10.1159/000526393

By:

Demir, Engin;
Doğulu, Neslihan;
Tuna Kırsaçlıoğlu, Ceyda;
Topçu, Vehap;
Eminoglu, Fatma Tuba;
Kuloğlu, Zarife;
Kansu, Aydan

Publication type:

Article