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Volume 7; Issue 5
Main
Molecular Syndromology
Volume 7; Issue 5
Molecular Syndromology
Volume 7; Issue 5
1
Language Impairment Resulting from a de novo Deletion of 7q32.1q33
Jiménez-Romero, María S.
,
Barcos-Martínez, Montserrat
,
Espejo-Portero, Isabel
,
Benítez-Burraco, Antonio
Journal:
Molecular Syndromology
Year:
2016
Language:
english
File:
PDF, 597 KB
Your tags:
english, 2016
2
PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature
Palumbo, Orazio
,
Palumbo, Pietro
,
Leone, Maria P.
,
Stallone, Raffaella
,
Palladino, Teresa
,
Vendemiale, Marcella
,
Palladino, Stefano
,
Papadia, Francesco
,
Carella, Massimo
,
Fischetto, Rira
Journal:
Molecular Syndromology
Year:
2016
Language:
english
File:
PDF, 495 KB
Your tags:
english, 2016
3
Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation
Faundes, Víctor
,
Santa María, Lorena
,
Morales, Paulina
,
Curotto, Bianca
,
Parraguez, María M.
Journal:
Molecular Syndromology
Year:
2016
Language:
english
File:
PDF, 447 KB
Your tags:
english, 2016
4
When Recessive Genes Mutate to Dominant Gene Action
Poot, Martin
Journal:
Molecular Syndromology
Year:
2016
Language:
english
File:
PDF, 219 KB
Your tags:
english, 2016
5
The Family of Crumbs Genes and Human Disease
Slavotinek, Anne M.
Journal:
Molecular Syndromology
Year:
2016
Language:
english
File:
PDF, 621 KB
Your tags:
english, 2016
6
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Izumi, Kosuke
Journal:
Molecular Syndromology
Year:
2016
Language:
english
File:
PDF, 1.32 MB
Your tags:
english, 2016
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