The Utility of Alpha-Fetoprotein Screening in Beckwith-Wiedemann Syndrome
Serum Alpha-Fetoprotein Screening for Hepatoblastoma in Beckwith-Wiedemann Syndrome
Additional Three Patients with Smith-McCort Dysplasia Due to Novel RAB33B Mutations
Novel NDUFS4 Frameshift Mutation Causes Leigh Disease in the Hutterite Population
Molecular and Clinical Analysis of ALPL in a Cohort of Patients with Suspicion of Hypophosphatasia
De Novo Splice Site Mutation in CASK Causes FG Syndrome-4 and Congenital Nystagmus
Signs of Dysarthria in Adults with 22q11.2 Deletion Syndrome
Out-of-Pocket Medical Costs and Third-Party Healthcare Costs for Children with Down Syndrome
Is Cutis Verticis Gyrata-Intellectual Disability Syndrome an Underdiagnosed Condition? A Case Report and Review of 62 Cases
Analysis of Copy Number Variants in 11 Pairs of Monozygotic Twins with Neurofibromatosis Type 1
A Novel Disorder of Sex Development, Characterized by Progressive Regression of Testicular Function and Cystic Leukoencephalopathy
CELSR2 , Encoding a Planar Cell Polarity Protein, Is a Putative Gene in Joubert Syndrome with Cortical Heterotopia, Microophthalmia, and Growth Hormone Deficiency
Brain Hemorrhages in Jacobsen Syndrome: A Retrospective Review of Six Cases and Clinical Recommendations
First Report of Factors Associated with Satisfaction in Patients With Neurofibromatosis
Incidence of Fragile X Syndrome in Ireland
Developing a CHARGE Syndrome Checklist: Health Supervision Across the Lifespan (From Head to Toe)
Constitutional Bone Impairment in Noonan Syndrome
Whole Exome Sequencing Identified 1 Base Pair Novel Deletion in BCL2-Associated Athanogene 3 (BAG3) Gene Associated with Severe Dilated Cardiomyopathy (DCM) Requiring Heart Transplant in Multiple Family Members
Prenatal and Postnatal Presentations of Corpus Callosum Agenesis with Polymicrogyria Caused By EGP5 Mutation
A Girl with Developmental Delay, Ataxia, Cranial Nerve Palsies, Severe Respiratory Problems in Infancy—Expanding NDST1 Syndrome
Potocki-Shaffer Syndrome in a Child without Intellectual Disability—The Role of PHF21A in Cognitive Function
A Chinese Patient with Toriello-Carey Syndrome and an Interstitial Deletion of 3q
Continuing Role for Classical Cytogenetics: Case Report of a Boy with Ring Syndrome Caused by Complete Ring Chromosome 4 and Review of Literature
Corner Fracture Type Spondylometaphyseal Dysplasia: Overlap with Type II Collagenopathies
Homozygous Mutation in PRUNE1 in an Oji-Cree Male with a Complex Neurological Phenotype
Rare Familial TSC2 Gene Mutation Associated with Atypical Phenotype Presentation of Tuberous Sclerosis Complex
An Elderly Jervell and Lange-Nielsen Patient Heterozygous Compound for Two New KCNQ1 Mutations
Atypical Angelman Syndrome Due to a Mosaic Imprinting Defect: Case Reports and Review of the Literature
Missense Variant in UBA2 Associated with Aplasia Cutis Congenita, Duane Anomaly, Hip Dysplasia, and Other Anomalies: A Possible New Disorder Involving the SUMOylation Pathway
10-Year-Old Female with Intragenic KANSL1 Mutation, No KANSL1 -Related Intellectual Disability, and Preserved Verbal Intelligence
1q21.3 Deletion Involving GATAD2B : An Emerging Recurrent Microdeletion Syndrome
TSC2 c.1864C>T Variant Associated with Mild Cases of Tuberous Sclerosis Complex
Prenatal Diagnosis of Inverted Duplication Deletion 8p Syndrome Mimicking Trisomy 18
Intrathecal Enzyme Replacement Therapy Reverses Cognitive Decline in Mucopolysaccharidosis type I
Timothy Syndrome 1 Genotype without Syndactyly and Major Extracardiac Manifestations
Adams-Oliver Syndrome Review of the Literature: Refining the Diagnostic Phenotype
De Novo 11q Deletion Including SHANK2 in a Patient with Global Developmental Delay
CRTAP Variants in Early-Onset Osteoporosis and Recurrent Fractures
A De Novo SATB2 Mutation in Monozygotic Twins with Cleft Palate, Dental Anomalies, and Developmental Delay
Surviving with Trisomy 13: Provider and Parent Perspectives and the Role of the Pediatric Palliative Care Program
The p.R56* Mutation in PTHLH Causes Variable Brachydactyly Type E
A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9
The Recurrent PPP1CB Mutation p.Pro49Arg in an Additional Noonan-Like Syndrome Individual: Broadening the Clinical Phenotype
Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients with Acid Sphingomyelinase Deficient Niemann-Pick Disease