Works matching IS 16618769 AND DT 2019 AND VI 10 AND IP 4

Results: 11

Front & Back Matter.

Published in:: Molecular Syndromology, 2019, v. 10, n. 4, p. N.PAG, doi. 10.1159/000502268
Publication type:: Article

Concurrent Structural and Single Nucleotide Variation Resulting from a Single Replication-Based Mechanism.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 183, doi. 10.1159/000501382

By:

Poot, Martin

Publication type:

Article

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 223, doi. 10.1159/000501183

By:

Bernstein, Ulrike;
Demuth, Stephanie;
Puk, Oliver;
Eichhorn, Birgit;
Schulz, Solveig

Publication type:

Article

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation?

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 219, doi. 10.1159/000501114

By:

Nair, Pratibha;
Sabbagh, Sandra;
Bizzari, Sami;
Brunner, Florian;
Stora, Samantha;
al-ali, Mahmoud T.;
Gencik, Martin;
El-Hayek, Stephany;
Mégarbané, andré

Publication type:

Article

Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 202, doi. 10.1159/000501008

By:

Hanna, Marcela D.;
Moretti, Patricia N.;
P. de Oliveira, Claudiner;
a. Rosa, Maria T.;
R. Versiani, Beatriz;
de Oliveira, Silviene F.;
Pic-Taylor, aline;
F. Mazzeu, Juliana

Publication type:

Article

A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 234, doi. 10.1159/000500397

By:

Dornelles-Wawruk, Halinna;
Soledad Heredia, Romina;
de Paula-Junior, Milton R.;
Cardoso, Maria Terezinha O.;
Bonadio, Raphael S.;
dos Reis, Bianca F.;
Pic-Taylor, aline;
de Oliveira, Silviene F.;
Mazzeu, Juliana F.

Publication type:

Article

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 209, doi. 10.1159/000500215

By:

Pons, Linda;
Bouvagnet, Patrice;
Bakloul, Mohamed;
Di Filippo, Sylvie;
Buisson, adrien;
Chatron, Nicolas;
Labalme, audrey;
Metton, Olivier;
Mitchell, Julia;
Diguet, Flavie;
Rollat-Farnier, Pierre-antoine;
Sanlaville, Damien;
Schluth-Bolard, Caroline

Publication type:

Article

Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 214, doi. 10.1159/000500005

By:

Gonçalves Ramos, Lélia L.;
Plaza Pinto, Irene;
Deb, Rajib;
Ribeiro, Cristiano L.;
Mírian da Cruz e Cunha, Damiana;
Bernardes Minasi, Lysa;
Cordeiro Silva, antonio M.T.;
da Cruz, aparecido D.

Publication type:

Article

GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 186, doi. 10.1159/000499209

By:

Trubnykova, Milana;
Bazalar Montoya, Jeny;
La Serna-Infantes, Jorge;
Vásquez Sotomayor, Flor;
Castro Mujica, María del Carmen;
abarca Barriga, Hugo Hernán

Publication type:

Article

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 195, doi. 10.1159/000499060

By:

Park, Joohyun;
Colombo, Roberto;
Schäferhoff, Karin;
Janiri, Luigi;
Grimmel, Mona;
Sturm, Marc;
Grasshoff, Ute;
Dufke, andreas;
Haack, Tobias B.;
Kehrer, Martin

Publication type:

Article

Torpedo Maculopathy Associated with NEXMIF Mutation.

Published in:

Molecular Syndromology, 2019, v. 10, n. 4, p. 229, doi. 10.1159/000498835

By:

alarcon-Martinez, Tuğba;
Khan, ayesha;
Myers, Kenneth a.

Publication type:

Article