Works matching IS 16618769 AND DT 2019 AND VI 10 AND IP 3

Results: 10

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 147, doi. 10.1159/000497092

By:

Bertini, Veronica;
Valetto, angelo;
Baldinotti, Fulvia;
azzarà, alessia;
Cambi, Francesca;
Toschi, Benedetta;
Giacomina, alessandro;
Gatti, Gian L.;
Gana, Simone;
Caligo, Maria a.;
Bertelloni, Silvano

Publication type:

Article

Novel Mutations and Unreported Clinical Features in KBG Syndrome.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 130, doi. 10.1159/000496172

By:

Scarano, Emanuela;
Tassone, Martina;
Graziano, Claudio;
Gibertoni, Dino;
Tamburrino, Federica;
Perri, annamaria;
Gnazzo, Maria;
Severi, Giulia;
Lepri, Francesca;
Mazzanti, Laura

Publication type:

Article

Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 177, doi. 10.1159/000496280

By:

Tallapaka, Karthik;
aggarwal, Shagun;
Bhattacherjee, amrita;
Das Bhowmik, aneek;
Dalal, ashwin

Publication type:

Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2019, v. 10, n. 3, p. N.PAG, doi. 10.1159/000500696
Publication type:: Article

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 167, doi. 10.1159/000496553

By:

Cammarata-Scalisi, Francisco;
Matysiak, Uta;
Velten, Tanja;
Callea, Michele;
araque, Dianora;
Willoughby, Colin E.;
Galeotti, angela;
avendaño, andrea

Publication type:

Article

1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 161, doi. 10.1159/000496079

By:

Radha Rama Devi, akella;
Ganapathy, aparna;
Mannan, ashraf U.;
Sabharanjak, Shefali;
Naushad, Shaik M.

Publication type:

Article

Phenotypic Spectrum and Severity of Disease Depending on the Mutated Protein Domain of NMDA Receptor-Encoding Genes.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 127, doi. 10.1159/000500004

By:

Poot, Martin

Publication type:

Article

Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 139, doi. 10.1159/000497402

By:

Bellucco, Fernanda T.;
Rodrigues de Oliveira-Júnior, Hélio;
Santos Guilherme, Roberta;
Bragagnolo, Silvia;
Alvarez Perez, Ana B.;
Ayres Meloni, Vera;
Melaragno, Maria I.

Publication type:

Article

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 171, doi. 10.1159/000497337

By:

abdelrahman, Hanadi a.;
John, anne;
ali, Bassam R.;
al-Gazali, Lihadh

Publication type:

Article

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.

Published in:

Molecular Syndromology, 2019, v. 10, n. 3, p. 154, doi. 10.1159/000495778

By:

Faye, Eden;
Modaff, Peggy;
Pauli, Richard;
Legare, Janet

Publication type:

Article