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