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BENEFITS OF GENOMIC SEQUENCING EVIDENT IN PEDIATRIC DIAGNOSES
RESEARCH DELVES INTO ROLE OF KEY PROTEINS IN FRAGILE X SYNDROME
IN THIS ISSUE
A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Significant Clinical Benefits of Molecular Studies in the Skeletal Dysplasias
ADAM “Sequence” Part II: Hypothesis and Speculation
Clinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New Patients
Copy Number Variations in Children with Brain Malformations and Refractory Epilepsy
Anirdia-Like Phenotype Caused by 6p25 Dosage Aberrations
Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis
Congenital Aural Atresia Associated With Agenesis of Internal Carotid Artery in a Girl With a FOXI3 Deletion
Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders
Duplication Xp11.22-p14 in Females: Does X-inactivation Help in Assessing their Significance?
Increased Plasma Chemokine Levels in Children with Prader–Willi Syndrome
Are Angelman and Prader-Willi Syndromes More Similar than we Thought? Food-Related Behavior Problems in Angelman, Cornelia de Lange, Fragile X, Prader-Willi and 1p36 Deletion Syndromes
Hypoplastic Left Heart Syndrome and 21q22.3 Deletion
CRTAP Mutation in a Patient With Cole-Carpenter Syndrome
Renal Complications in 6p Duplication Syndrome: Microarray-Based Investigation of the Candidate Gene(s) for the Development of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and Focal Segmental Glomerular Sclerosis (FSGS)
Apneas Observed in Trisomy 18 Neonates Should be Differentiated from Epileptic Apneas
Further Insight Into the Phenotype Associated With a Mutation in the ORC6 Gene, Causing Meier–Gorlin Syndrome 3
Recurrent Enlarged Nuchal Translucency: First Trimester Presentation of a Familial 15q26→qter Deletion
Total Colonic Aganglionosis and Imperforate Anus in a Severely Affected Infant With Pallister-Hall Syndrome
Biochemical Abnormalities in Pearson Syndrome
Expanding the Phenotype of Timothy Syndrome Type 2: An Adolescent with Ventricular Fibrillation but Normal Development
Hepatoblastoma in a Patient with Methylmalonic Aciduria
Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome
Association of Achondroplasia With Sagittal Synostosis and Scaphocephaly in Two Patients, an Underestimated Condition?
Interstitial Duplication of Chromosome Region 1q25.1q25.3: Report of a Patient With Mild Cognitive Deficits, Tall Stature and Facial Dysmorphisms
Kaufman Oculocerebrofacial Syndrome in Sisters with Novel Compound Heterozygous Mutation in UBE3B
Partial MEF2C Deletion in a Cypriot Patient With Severe Intellectual Disability and a Jugular Fossa Malformation: Review of the Literature
A Post GWAS Association Study of SNPs Associated With Cleft Lip With or Without Cleft Palate in Submucous Cleft Palate
17q12 Microduplications: A Challenge for Clinicians
“X-Linked Mental Retardation and Conjuntival Teleangectasias”: Correction of the Previously Reported Karyotype
Response to “Prenatal Genetic Counseling in Klinefelter Syndrome: Comments on the Article by Lalatta and Tint [2013] and a Proposal of a New Approach” by Pimpolari et al.