Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 6

Results: 11

Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 379, doi. 10.1159/000517370

By:

Agaoglu, Nihat Bugra;
Akgun Dogan, Ozlem

Publication type:

Article

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 342, doi. 10.1159/000517253

By:

Mégarbané, André;
Hana, Sayeeda;
Mégarbané, Hala;
Castro, Christel;
Baulande, Sylvain;
Criqui, Audrey;
Roëckel-Trevisiol, Nathalie;
Dagher, Christel;
Al-Ali, Mahmoud Taleb;
Desvignes, Jean-Pierre;
Mahfoud, Daniel;
El-Hayek, Stephany;
Delague, Valérie

Publication type:

Article

Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 393, doi. 10.1159/000517272

By:

Şahin, Süleyman;
Yıldırım, Miraç;
Bektaş, Ömer;
Sürücü Kara, İlknur;
Ceylan, Ahmet Cevdet;
Teber, Serap

Publication type:

Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2021, v. 12, n. 6, p. 1, doi. 10.1159/000520549
Publication type:: Article

Differential Expression of Long Noncoding RNAs in Patients with Coronary Artery Disease.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 372, doi. 10.1159/000517077

By:

Saygili, Hamide;
Bozgeyik, Ibrahim;
Yumrutas, Onder;
Akturk, Erdal;
Bagis, Haydar

Publication type:

Article

Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 362, doi. 10.1159/000518115

By:

Kalantari, Silvia;
Filges, Isabel

Publication type:

Article

Contents, Vol. 12, 2021.

Published in:: Molecular Syndromology, 2021, v. 12, n. 6, p. I, doi. 10.1159/000520173
Publication type:: Article

Balanced at First Sight, but in Reality out of Balance.

Published in:

2021

By:

Poot, Martin

Publication type:

Editorial

FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 386, doi. 10.1159/000516971

By:

Umair, Muhammad;
Alkharfy, Turki M.;
Sajjad, Sajida;
Alfadhel, Majid

Publication type:

Article

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 351, doi. 10.1159/000516943

By:

Ahmad, Farooq;
Ahmed, Ishtiaq;
Alam, Qamre;
Ahmad, Tanveer;
Khan, Ammara;
Ahmad, Ijaz;
Bilal, Muhammad;
Hayat, Amir;
Khan, Amjad;
Waqas, Ahmed;
Rafeeq, Misbahuddin M.;
Sain, Ziaullah M.;
Umair, Muhammad

Publication type:

Article

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients.

Published in:

Molecular Syndromology, 2021, v. 12, n. 6, p. 335, doi. 10.1159/000516816

By:

Akalın, Akçahan;
Ertuğrul, İlker;
Şimşek-Kiper, Pelin Özlem;
Utine, Gülen Eda;
Boduroğlu, Koray

Publication type:

Article