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

Results: 10

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
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
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