Journal of Pediatric Genetics

Issue 03 · September 2015

eFirst
Issue
Foreword
125
Milani, Donatella; Ronzoni, Luisa; Esposito, Susanna: Genetic Advances in Intellectual Disability

Full Text

HTML

PDF (60 kb)
Review Article
128
Carvill, Gemma L.; Mefford, Heather C.: Next-Generation Sequencing in Intellectual Disability

Full Text

HTML

PDF (403 kb)
136
Edmondson, Andrew C.; Kalish, Jennifer M.: Overgrowth Syndromes

Full Text

HTML

PDF (506 kb)
144
van Steensel, Maurice A. M.: Neurocutaneous Manifestations of Genetic Mosaicism

Full Text

HTML

PDF (1540 kb)
154
Pezzani, Lidia; Milani, Donatella; Tadini, Gianluca: Intellectual Disability: When the Hypertrichosis Is a Clue

Full Text

HTML

PDF (99 kb)
159
Neira-Fresneda, Juanita; Potocki, Lorraine: Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

Full Text

HTML

PDF (670 kb)
168
Marangi, Giuseppe; Zollino, Marcella: Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge

Full Text

HTML

PDF (1008 kb)
177
Spena, Silvia; Gervasini, Cristina; Milani, Donatella: Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome

Full Text

HTML

PDF (631 kb)
Most Read
Archive
Free Sample Issue

Journal

Authors

Subscription