Works matching IS 16618769 AND DT 2020 AND VI 11 AND IP 4

Results: 10

Front & Back Matter.

Published in:: Molecular Syndromology, 2020, v. 11, n. 4, p. 1, doi. 10.1159/000512838
Publication type:: Article

Publisher's Note.

Published in:: Molecular Syndromology, 2020, v. 11, n. 4, p. 177, doi. 10.1159/000512362
Publication type:: Article

Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 232, doi. 10.1159/000510172

By:

Ogasawara, Masashi;
Nakagawa, Eiji;
Takeshita, Eri;
Hamanaka, Kohei;
Miyatake, Satoko;
Matsumoto, Naomichi;
Sasaki, Masayuki

Publication type:

Article

Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease.

Published in:

2020

By:

Poot, Martin

Publication type:

Editorial

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 207, doi. 10.1159/000510171

By:

Vuralli, Dogus;
Kosukcu, Can;
Taskiran, Ekim;
Simsek-Kiper, Pelin Ozlem;
Utine, Gulen Eda;
Boduroglu, Koray;
Alikasifoglu, Ayfer;
Alikasifoglu, Mehmet

Publication type:

Article

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 183, doi. 10.1159/000509838

By:

Toksoy, Güven;
Uludağ Alkaya, Dilek;
Bagirova, Gülendam;
Avcı, Şahin;
Aghayev, Agharza;
Günes, Nilay;
Altunoğlu, Umut;
Alanay, Yasemin;
Başaran, Seher;
Berkay, Ezgi G.;
Karaman, Birsen;
Celkan, Tiraje T.;
Apak, Hilmi;
Kayserili, Hülya;
Tüysüz, Beyhan;
Uyguner, Zehra O.

Publication type:

Article

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 223, doi. 10.1159/000509837

By:

Perge, Kevin;
Massoud, Mona;
Gauthier-Moulinier, Hélène;
Lascols, Olivier;
Pangaud, Nicolas;
Villanueva, Carine;
Pons, Linda

Publication type:

Article

First Infertile Case with CSTF2TGene Mutation.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 228, doi. 10.1159/000509686

By:

Gorukmez, Ozlem;
Gorukmez, Orhan

Publication type:

Article

A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 217, doi. 10.1159/000509646

By:

Eras, Nazan

Publication type:

Article

Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions.

Published in:

Molecular Syndromology, 2020, v. 11, n. 4, p. 197, doi. 10.1159/000509645

By:

Çebi, Alper Han;
Altıner, Şule

Publication type:

Article