Responsible patient advocacy: Perspectives from the Alpha-1 Foundation
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
Comment on prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese population
Prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese population
Neuroimaging aspects of Aicardi syndrome
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36
Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication
Heterozygous deletion at 14q22.1–q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly
Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3
Sib pair with previously unreported skeletal dysplasia
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST
Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening
Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome
Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy–Walker malformation
Molecular cytogenetic characterization of an 8p22–8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient
Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation
A new hypothesis of OCA1B
First cryptic balanced reciprocal translocation mosaicism and familial transmission
A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity
Corrigendum to “DNA Sequence Analysis of GJB2 , Encoding Connexin 26: Observations From a Population of Hearing Impaired Cases and Variable Carrier Rates, Complex Genotypes, and Ethnic Stratification of Alleles Among Controls” Am J Med Genet Part A 140A:2401–2415