Volume 7; Issue 5

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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

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

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

english, 2016

4

When Recessive Genes Mutate to Dominant Gene Action

Journal:

Molecular Syndromology

Year:

2016

Language:

english

File:

PDF, 219 KB

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

english, 2016

6

Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes

Journal:

Molecular Syndromology

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016