Journal of Pediatric Genetics 2015_03-_Genetic_Advances_in_Intellectual_Disability.html Ocak 27, 2025’' te gönderildi osman tarafından Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 04 · September 2015 DOI: 10.1055/s-005-30634 Genetic Advances in Intellectual Disability Guest Editor: Donatella Milani, MD 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) osman 2017_03-_129-204___e1.html 2014_01-_1-44.html