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Volume 8; Issue 1
Main
Molecular Syndromology
Volume 8; Issue 1
Molecular Syndromology
Volume 8; Issue 1
1
Williams Syndrome and 15q Duplication: Coincidence versus Association
Khokhar, Aditi
,
Agarwal, Swashti
,
Perez-Colon, Sheila
Journal:
Molecular Syndromology
Year:
2017
Language:
english
File:
PDF, 82 KB
Your tags:
english, 2017
2
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition
Cunniff, Christopher
,
Bassetti, Jennifer A.
,
Ellis, Nathan A.
Journal:
Molecular Syndromology
Year:
2017
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2017
3
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome
Lundsgaard, Malene
,
Le, Vang Q.
,
Ernst, Anja
,
Laugaard-Jacobsen, Hans C.
,
Rasmussen, Kirsten
,
Pedersen, Inge S.
,
Petersen, Michael B.
Journal:
Molecular Syndromology
Year:
2017
Language:
english
File:
PDF, 170 KB
Your tags:
english, 2017
4
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature
Rivera-Pedroza, Carlos I.
,
Barraza-García, Jimena
,
Paumard-Hernández, Beatriz
,
Nevado, Julian
,
Orbea-Gallardo, Carlos
,
Sánchez del Pozo, Jaime
,
Heath, Karen E.
Journal:
Molecular Syndromology
Year:
2017
Language:
english
File:
PDF, 547 KB
Your tags:
english, 2017
5
17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation
Barros Fontes, Marshall I.
,
dos Santos, Ana P.
,
Rossi Torres, Fábio
,
Lopes-Cendes, Iscia
,
Cendes, Fernando
,
Appenzeller, Simone
,
Kawasaki de Araujo, Tânia
,
Lopes Monlleó, Isabella
,
Gil-da-Silva-Lopes,
Journal:
Molecular Syndromology
Year:
2017
Language:
english
File:
PDF, 232 KB
Your tags:
english, 2017
6
Recombine and Associate to Prevent Genomic Instability and Premature Aging
Poot, Martin
Journal:
Molecular Syndromology
Year:
2017
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2017
7
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations
Guanciali-Franchi, Paolo
,
Celentano, Claudio
,
Alfonsi, Melissa
,
Palka, Chiara
,
Di Pasqua, Giulietta
,
Matarrelli, Barbara
,
Palka, Giandomenico
Journal:
Molecular Syndromology
Year:
2017
Language:
english
File:
PDF, 157 KB
Your tags:
english, 2017
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