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Publications by Bruno Dallapiccola

Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

American Journal of Human Genetics
Genetics
2018English

Cover Image, Volume 39, Issue 10

Human Mutation
Genetics
2018English

Kinematic and Diffusion Tensor Imaging Definition of Familial Marcus Gunn Jaw-Winking Synkinesis

PLoS ONE
Multidisciplinary
2012English

The Human Gut Microbiota: A Dynamic Interplay With the Host From Birth to Senescence Settled During Childhood

Pediatric Research
Child HealthPediatricsPerinatology
2014English

Obituary of Dr. Angelo Di George

Italian Journal of Pediatrics
Child HealthPediatricsPerinatology
2010English

Corrigendum: Gain-Of-Function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome

Nature Genetics
Genetics
2007English

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

American Journal of Human Genetics
Genetics
2005English

Atrioventricular Canal Defect in Bardet-Biedl Syndrome: Clinical Evidence Supporting the Link Between Atrioventricular Canal Defect and Polydactyly Syndromes With Ciliary Dysfunction536

Genetics in Medicine
MedicineGenetics
2006English

A Single-Nucleotide Polymorphism in the Human Bone Morphogenetic Protein-4 ( BMP 4 ) Gene

Journal of Human Genetics
Genetics
1999English

KBG Syndrome

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2006English
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