Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 2

Results: 10

Front & Back Matter.

Published in:: Molecular Syndromology, 2021, v. 12, n. 2, p. 1, doi. 10.1159/000516741
Publication type:: Article

Precision Medicine: from Molecular Diagnoses to Treatment Opportunities in Medical Genetics.

Published in:

2021

By:

Poot, Martin

Publication type:

Editorial

Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 87, doi. 10.1159/000513313

By:

Refaat, Khaled;
Helmy, Nivine;
Elawady, Mohamed;
El Ruby, Mona;
Kamel, Alaa;
Mekkawy, Mona;
Ashaat, Engy;
Eid, Ola;
Mohamed, Amal;
Rady, Mervat

Publication type:

Article

A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 127, doi. 10.1159/000513224

By:

Enomoto, Yumi;
Tsurusaki, Yoshinori;
Tominaga, Makiko;
Kobayashi, Shinji;
Inoue, Maki;
Fujita, Kazutoshi;
Kumaki, Tatsuro;
Murakami, Hiroaki;
Kurosawa, Kenji

Publication type:

Article

Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 69, doi. 10.1159/000513217

By:

Varadarajan, Saranya;
Balaji, Thodur Madapusi;
Raj, A. Thirumal;
Gupta, Archana A.;
Patil, Shankargouda;
Alhazmi, Tariq Hassan;
Alaqi, Halah Athman Ali;
Al Omar, Neda Essa M.;
Almutaher, Somayh Abu Baker A.;
Jafer, Alhassen Abdurabu;
Hedad, Ismaeel Abker

Publication type:

Article

Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 118, doi. 10.1159/000513199

By:

Khodaeian, Mehrnoosh;
Jafarinia, Ehsan;
Bitarafan, Fatemeh;
Shafeii, Shohreh;
Almadani, Navid;
Daneshmand, Mohammad Ali;
Garshasbi, Masoud

Publication type:

Article

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 112, doi. 10.1159/000513111

By:

Kisla Ekinci, Rabia Miray;
Balci, Sibel;
Dogan, Haldun;
Ceylaner, Serdar;
Varan, Celal;
Erdem, Sevcan;
Coban, Fatma;
Bisgin, Atil

Publication type:

Article

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 106, doi. 10.1159/000513078

By:

Ürel-Demir, Gizem;
Aydın, Büşra;
Karaosmanoğlu, Beren;
Akgün-Doğan, Özlem;
Taşkıran, Ekim Zihni;
Şimşek-Kiper, Pelin Özlem;
Utine, Gülen Eda;
Boduroğlu, Koray

Publication type:

Article

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 96, doi. 10.1159/000512856

By:

Wang, Chen-Yu;
Yu, Fang;
Jin, Jie-Yuan;
He, Ji-Qiang;
Fan, Liang-Liang;
Tang, Ju-Yu;
Xiang, Rong

Publication type:

Article

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy.

Published in:

Molecular Syndromology, 2021, v. 12, n. 2, p. 101, doi. 10.1159/000512566

By:

Spagnoli, Carlotta;
Rizzi, Susanna;
Salerno, Grazia Gabriella;
Frattini, Daniele;
Koskenvuo, Juha;
Fusco, Carlo

Publication type:

Article