35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting
The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach
Clinical Utility of a Next Generation Sequencing Panel Assay for Marfan and Marfan-Like Syndromes Featuring Aortopathy
Prevalence of Thoracic Aortopathy in Patients with Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4
Clinical, Structural, Biochemical and X-Ray Crystallographic Correlates of Pathogenicity for Variants in the C-Propeptide Region of the COL3A1 Gene
High Plasma Neurotensin Levels in Children with Prader–Willi Syndrome
Paroxysmal Supraventricular Tachycardia in Pregnant Women and Birth Outcomes of Their Children: A Population-Based Study
Parental Strategies to Help Children with Phenylketonuria (PKU) Cope With Feeling Different
Whole Exome Sequencing Identifies De Novo Heterozygous CAV1 Mutations Associated with a Novel Neonatal Onset Lipodystrophy Syndrome
Developmental Status of 22 Children with Trisomy 18 and Eight Children with Trisomy 13: Implications and Recommendations
Medical Procedures and Outcomes of Japanese Patients With Trisomy 18 or Trisomy 13: Analysis of a Nationwide Administrative Database of Hospitalized Patients
The Diagnostic Value of Next Generation Sequencing in Familial Nonsyndromic Congenital Heart Defects
Sleep Profiles in Children with Down Syndrome
A Familial Interstitial 4q35 Deletion with No Discernible Clinical Effects
A De Novo 1.58 Mb Deletion, Including MAP2K6 and Mapping 1.28 Mb Upstream to SOX9 , Identified in a Patient With Pierre Robin Sequence and Osteopenia with Multiple Fractures
Refining the Regulatory Region Upstream of SOX9 Associated with 46,XX Testicular Disorders of Sex Development (DSD)
Partial Trisomy of 11q23.3-q25 Inherited from a Maternal Low-Level Mosaic Unbalanced Translocation
A Novel Interstitial Deletion of 2q22.3 q23.3 in a Patient with Dysmorphic Features, Epilepsy, Aganglionosis, Pure Red Cell Aplasia, and Skeletal Malformations
Allan–Herndon–Dudley Syndrome with Unusual Profound Sensorineural Hearing Loss
12q21.2q22 Deletion: A New Patient
Clinical and Molecular Characterization of an Infant with a Tandem Duplication and Deletion of 19p13
Haploinsufficiency of ANO6, NELL2 and DBX2 in a Boy with Intellectual Disability and Growth Delay
TCF12 Microdeletion in a 72-year-old Woman with Intellectual Disability
Noonan Syndrome-Like Disorder with Loose Anagen Hair: A Second Case with Neuroblastoma
RPL10 Mutation Segregating in a Family with X-Linked Syndromic Intellectual Disability
Novel Homozygous Mutation in KPTN Gene Causing a Familial Intellectual Disability-Macrocephaly Syndrome
Microdeletion 1p35.2: A Recognizable Facial Phenotype with Developmental Delay
A Novel Maternally Inherited 8q24.3 and a Rare Paternally Inherited 14q23.3 CNVS in a Family with Neurodevelopmental Disorders
Co-Occurrence of a De Novo Williams and 22q11.2 Microdeletion Syndromes
De Novo 4q Duplication/Deletion in a Fetus with a Congenital Heart Defect
Ataxia-Telangiectasia with Female Fertility
STAR Syndrome is Part of the Differential Diagnosis of Females with Anorectal Malformations
Concurrent Diagnoses of Prader–Willi Syndrome and GM2 Gangliosidosis Caused by Uniparental Disomy of Chromosome 15
Geleophysic Dysplasia: A Novel In-Frame Deletion of a Tandem Repeat in the ADAMTSL2 Gene
Compound Heterozygous Myotonic Dystrophy Type 1
Consider the Neuro-Cardiac Continuum of Coffin-Lowry Syndrome!