Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 4

Results: 10

Front & Back Matter.

Published in:: Molecular Syndromology, 2021, v. 12, n. 4, p. 1, doi. 10.1159/000518465
Publication type:: Article

Publisher's Note.

Published in:: Molecular Syndromology, 2021, v. 12, n. 4, p. 201, doi. 10.1159/000518029
Publication type:: Article

Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 263, doi. 10.1159/000515645

By:

Brndiarova, Miroslava;
Mraz, Martin;
Kolkova, Zuzana;
Cisarik, Frantisek;
Banovcin, Peter

Publication type:

Article

First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 258, doi. 10.1159/000515400

By:

Turkyilmaz, Ayberk;
Kurnaz, Erdal;
Cayir, Atilla

Publication type:

Article

Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 250, doi. 10.1159/000515081

By:

Flores-Contreras, Elda Ariadna;
García-Ortiz, José Elías;
Robles-Espinoza, Carla Daniela;
Zomosa-Signoret, Viviana;
Becerra-Solano, Luis Eduardo;
Vidaltamayo, Román;
Castaneda-García, Carolina;
Esparza-García, Eduardo;
Molina-Aguilar, Christian;
Hernández-Orozco, Angélica Alejandra;
Córdova-Fletes, Carlos

Publication type:

Article

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 219, doi. 10.1159/000515044

By:

de Castro, Viviane Freitas;
Mattos, Daniel;
de Carvalho, Flavia Martinez;
Cavalcanti, Denise Pontes;
Duenas-Roque, Milagros M.;
Llerena Jr, Juan;
Cosentino, Viviana Raquel;
Honjo, Rachel Sayuri;
Leite, Julio Cesar Loguercio;
Sanseverino, Maria Teresa;
de Souza, Márcia Pereira Alves;
Bernardi, Pricila;
Bolognese, Ana Maria;
Santana da Silva, Luiz Carlos;
Barbero, Pablo;
Correia, Patricia Santana;
Bueno, Larissa Souza Mario;
Savastano, Clarice Pagani;
Orioli, Iêda Maria

Publication type:

Article

An 88.8-kb Novel Deletion of 19q13.2 Encompassing the ATP1A3Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 234, doi. 10.1159/000515043

By:

García-Payá, Elena;
Gutiérrez-Agulló, María;
García-Prieto, Francisco F.;
Francés Ferre, Jorge

Publication type:

Article

Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBPGene.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 240, doi. 10.1159/000514531

By:

Ozyavuz Cubuk, Pelin

Publication type:

Article

Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 202, doi. 10.1159/000514437

By:

Dierssen, Mara;
Herault, Yann;
Helguera, Pablo;
Martínez de Lagran, Maria;
Vazquez, Anna;
Christian, Bradley;
Carmona-Iragui, Maria;
Wiseman, Frances;
Mobley, William;
Fisher, Elizabeth M.C.;
Brault, Veronique;
Esbensen, Anna;
Jacola, Lisa M.;
Potier, Marie Claude;
Hamlett, Eric D.;
Abbeduto, Leonard;
del Hoyo Soriano, Laura;
Busciglio, Jorge;
Iulita, Maria Florencia;
Crispino, John

Publication type:

Article

A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.

Published in:

Molecular Syndromology, 2021, v. 12, n. 4, p. 244, doi. 10.1159/000513607

By:

Li, Ying;
Xu, Yajuan;
Li, Genxia;
Chen, Kang;
Yu, Haiyang;
Gao, Jinshuang;
Tian, Weifang;
Liu, Yuehua;
Liu, Pingping;
Zhang, Linlin;
Zhang, Zhan

Publication type:

Article