logo
Ramos-Arroyo syndrome: Long-term follow-up of previously reported family
Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?
Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region
Health-related quality of life of children with a positive carrier status for inherited cardiovascular diseases
Cognitive and motor development during childhood in boys with Klinefelter syndrome
Child and genetic variables associated with maternal adaptation to fragile X syndrome: A multidimensional analysis
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals
Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families
Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH
Clinical and radiographic delineation of odontochondrodysplasia
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs
Mutation screening in the IRF6 -gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance
Pre- and postnatal overgrowth in a patient with proximal 4p deletion
Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: Determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q
Applied genetics in health care. A handbook for specialist practitioners. Heather Skirton, Christine Patch, Janet Williams, editors. New York: Taylor and Francis Group, 2005. 274 p.
Teenager with uterine didelphys, absent kidney and 22q11.2 deletion