Encomium to Accompany “Of Mice and Children
Of Mice and Children
Syndromes and Epistemology II
Cohen Syndrome Resulting From a Novel Large Intragenic COH1 Deletion Segregating in an Isolated Greek Island Population
Breakpoint Localization Using Array-CGH in Three Siblings With an Unbalanced 4q;16q Translocation and Childhood Apraxia of Speech (CAS)
Fine Mapping of Breakpoints in Two Unrelated Patients With Rare Overlapping Interstitial Deletions of 9q With Mild Dysmorphic Features
Identification of Chromosome Abnormalities in Subtelomeric Regions by Microarray Analysis
Molecular Study of 33 Families With Fraser Syndrome New Data and Mutation Review
Autoimmune Disease in a DFNA6/14/38 Family Carrying a Novel Missense Mutation in WFS1
Consumer Contribution to the Delivery of Genetic Health Services
An Epidermal Nevus Syndrome with Cerebral Involvement Caused by a Mosaic FGFR3 Mutation
Autosomal Dominant Isolated Question Mark Ear
Deletion (1)(p32.2-p32.3) Detected by Array-CGH in a Patient With Developmental Delay/Mental Retardation, Dysmorphic Features and Low Cholesterol
Scott Sign
Molecular Cytogenetic Analysis of a de novo Interstitial Deletion of Chromosome 10q (q25.3q26.13) in a Male Child With Ambiguous Genitalia
Germline Duplication of Chromosomes 10p15.3 and Yp11.32 in a Man With Learning Disability and Early Onset Cutaneous Malignant Melanoma
A c.1019A > G Mutation in FGFR2 , Which Predicts p.Tyr340Cys, in a Lethally Malformed Fetus With Pfeiffer Syndrome and Multiple Pterygia
Feingold Syndrome Associated With Two Novel MYCN Mutations in Sporadic and Familial Cases Including Monozygotic Twins
Locus Homogeneity Between Syndactyly Type 1A and Craniosynostosis Philadelphia Type?