Update from the 2013 International Neurofibromatosis Conference
Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study
Nine Children Over the Age of One Year with Full Trisomy 13: A Case Series Describing Medical Conditions†
Novel Mutation in TSPAN12 Leads to Autosomal Recessive Inheritance of Congenital Vitreoretinal Disease With Intra-Familial Phenotypic Variability
CHD 7 Mutations are not a Major Cause of Atrioventricular Septal and Conotruncal Heart Defects
Nosology and Inheritance Pattern(s) of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome, Hypermobility Type: A Study of Intrafamilial and Interfamilial Variability in 23 Italian Pedigrees
Handing the Pen to the Patient: Reflective Writing for Children and Families Affected by Genetic Conditions
Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures
A Complex Xp11.22 Deletion in a Patient With Syndromic Autism: Exploration of FAM120C as a Positional Candidate Gene for Autism
Cognitive-Motor Profile, Clinical Characteristics and Diagnosis of CHARGE Syndrome: An Italian Experience
Identification of a Novel Missense Mutation in the WFS1 Gene as a Cause of Autosomal Dominant Nonsyndromic Sensorineural Hearing Loss in All-Frequencies
3p25.3 Microdeletion of GABA Transporters SLC6A1 and SLC6A11 Results in Intellectual Disability, Epilepsy and Stereotypic Behavior
Genetic Knowledge and Attitudes of Parents of Children with Congenital Heart Defects
Duodenal Atresia in 17q12 Microdeletion Including HNF1B : A New Associated Malformation in this Syndrome
Intragenic Duplication—A Novel Causative Mechanism for SATB2-Associated Syndrome
Mosaic Deletion of EXOC6B : Further Evidence for An Important Role of the Exocyst Complex in the Pathogenesis of Intellectual Disability
Early Manifestations of BPAN in a Pediatric Patient
Identification of TBX5 Mutations in a Series of 94 Patients With Tetralogy of Fallot
Possible Preventive Effect of High Doses of Folic Acid for Isolated Hypospadias: A National Population-Based Case–Control Study
Molecular Etiology of Non-Dominant, Non-Syndromic, Mild-to-Moderate Childhood Hearing Impairment in Chinese Hans
Phenotypic Variability Associated With the Invariant SHOC2 c.4A>G (p.Ser2Gly) Missense Mutation
Disruption of the ARID1B and ADAMTS6 Loci due to a t(5;6)(q12.3;q25.3) in a Patient With Developmental Delay
Novel Interstitial Deletion of 10q24.3–25.1 Associated with Multiple Congenital Anomalies Including Lobar Holoprosencephaly, Cleft Lip and Palate, and Hypoplastic Kidneys
Recurrent ˜100 Kb Microdeletion in the Chromosomal Region 14q11.2, Involving CHD8 Gene, is Associated with Autism and Macrocephaly
Periventricular Nodular Heterotopia in Smith-Magenis Syndrome
Severe Epilepsy in An Adult with Partial Trisomy 18q
Seizures and EEG Features in 74 Patients With Genetic-Dysmorphic Syndromes
HIBCH Deficiency in a Patient with Phenotypic Characteristics of Mitochondrial Disorders
First Description of a Patient With Vici Syndrome Due to A Mutation Affecting the Penultimate Exon of EPG5 and Review of the Literature†
Variable Expressivity of Pfeiffer Syndrome in a Family With FGFR1 p.Pro252Arg Mutation
Inverted Duplication With Deletion: First Interstitial Case Suggesting A Novel Undescribed Mechanism of Formation
Co-Occurrence of Non-Mosaic Trisomy 22 and Inherited Balanced t(4;6)(q33;q23.3) in a Liveborn Female: Case Report and Review of the Literature
De Novo Interstitial Deletion 2q14.1q22.1: Is There a Recognizable Phenotype?
Pathological Changes in Cardiac Muscle and Cerebellar Cortex in Vici Syndrome
Partial AFF2 Microduplication in A Patient With Auditory Processing Disorder, Emotional Impairment and Macrosomia
Deletion of AFG3L2 Associated With Spinocerebellar Ataxia Type 28 in the Context of Multiple Genomic Anomalies
A Cryptic Unbalanced Translocation Der(4)t(4;17)(p16.1;q25.3) Identifies Wittwer Syndrome As a Variant of Wolf-Hirschhorn Syndrome