A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations in PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair
Phenotype, Cancer Risk, and Surveillance in Beckwith–Wiedemann Syndrome Depending on Molecular Genetic Subgroups
Tumor Screening in Beckwith–Wiedemann Syndrome—To Screen or Not to Screen?
BRAT1 Mutations Present with a Spectrum of Clinical Severity
BRAT1 Mutations Are Associated with Infantile Epileptic Encephalopathy, Mitochondrial Dysfunction, and Survival Into Childhood
Deletion 2q37 Syndrome: Cognitive-Behavioral Trajectories and Autistic Features Related to Breakpoint and Deletion Size
Determinants of Sleep Disturbances in Rett Syndrome: Novel Findings in Relation to Genotype
Neurophysiology Versus Clinical Genetics in Rett Syndrome: A Multicenter Study
Diagnosis of Van den Ende–Gupta Syndrome: Approach to the Marden–Walker-Like Spectrum of Disorders
SETD5 Loss-of-Function Mutation as a Likely Cause of a Familial Syndromic Intellectual Disability with Variable Phenotypic Expression
Higher Plasma Orexin A Levels in Children with Prader–Willi Syndrome Compared with Healthy Unrelated Sibling Controls
Analysis of Peripheral Amyloid Precursor Protein in Angelman Syndrome
Is One Diagnosis the Whole Story? Patients with Double Diagnoses
Perceived Motor Problems in Daily Life: Focus Group Interviews with People with Noonan Syndrome and Their Relatives
Oro-Dental Features of Pallister–Killian Syndrome: Evaluation of 21 European Probands
Genotype–Phenotype Correlation and Pregnancy Outcomes of Partial Trisomy 14q: A Systematic Review
Recurrence of Split Hand/Foot Malformation, Cleft Lip/Palate, and Severe Urogenital Abnormalities due to Germline Mosaicism for TP63 Mutation
A Novel MED12 Mutation: Evidence for a Fourth Phenotype
Delayed Diagnosis in a House of Correction: Smith–Magenis Syndrome Due to a De Novo Nonsense RAI1 Variant
Congenital Immunodeficiency in an Individual with Wiedemann–Steiner Syndrome Due to a Novel Missense Mutation in KMT2A
Interstitial 1q23.3q24.1 Deletion in a Patient with Renal Malformation, Congenital Heart Disease, and Mild Intellectual Disability
Chronic Intestinal Pseudo-Obstruction in a Child Harboring a Founder Hirschsprung RET Mutation
Van der Woude and Popliteal Pterygium Syndromes: Broad Intrafamilial Variability in a Three Generation Family with Mutation in IRF6
RIN2 Syndrome: Expanding the Clinical Phenotype
The First Patient with Tandem Duplication of 6q14q16: Molecular and Phenotypic Characterization
MED23 -Associated Refractory Epilepsy Successfully Treated with the Ketogenic Diet
Prenatal Diagnosis of Chudley–McCullough Syndrome
Macrosomia, Obesity, and Macrocephaly as First Clinical Presentation of PHP1b Caused by STX16 Deletion
A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival
Phenotypic Expansion of TBX4 Mutations to Include Acinar Dysplasia of the Lungs
A Novel 5q11.2 Microdeletion in a Child with Mild Developmental Delay and Dysmorphic Features
Siblings with Severe Pyruvate Kinase Deficiency and a Complex Genotype
Homozygosity for Moyamoya Disease Risk Allele Leads to Moyamoya Disease with Extracranial Systemic and Pulmonary Vasculopathy
De Novo Frameshift Mutation in COUP-TFII ( NR2F2 ) in Human Congenital Diaphragmatic Hernia
Further Evidence of POP1 Mutations as the Cause of Anauxetic Dysplasia
Mandibular Dysostosis without Microphthalmia Caused by OTX2 Deletion
8q21.11 Microdeletion in Two Patients with Syndromic Peters Anomaly
Deletion Upstream of SALL1 Producing Townes–Brocks Syndrome
Urorectal Septum Malformation Sequence—Fetal Series with the Description of a New “Intermediate” Variant. Time to Refine the Terminology?
A Patient with Temple Syndrome Satisfying the Clinical Diagnostic Criteria of Silver–Russell Syndrome
Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C