Eur. J. Hum. Genet. - issue: 6 - volume: 23 - pages: .

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: - volume: 138 - pages: 1505-1517.

Mesenchymal stem cell (MSC) transplantation is used for treatment of many diseases. The paracrine role of MSCs in tissue regeneration is attracting particular attention. We investigate the role of MSC...
FEBS Lett. - issue: 11 - volume: 589 - pages: 1257-1265.

Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis,...
Am. J. Hum. Genet. - issue: 5 - volume: 96 - pages: 816-825.

Arch Pediatr - issue: 5 - volume: 22 - pages: 562-563.

Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique...
Clin. Genet. - issue: 5 - volume: 87 - pages: 488-491.

Heart valve development begins with the endothelial-to-mesenchymal transition (EMT) of endocardial cells. Although lineage studies have demonstrated contributions from cardiac neural crest and...
Genesis - issue: 5 - volume: 53 - pages: 337-345.

Heart valve development begins with the endothelial-to-mesenchymal transition (EMT) of endocardial cells. Although lineage studies have demonstrated contributions from cardiac neural crest and...
Genesis - issue: 5 - volume: 53 - pages: 337-345.

Heart valve development begins with the endothelial-to-mesenchymal transition (EMT) of endocardial cells. Although lineage studies have demonstrated contributions from cardiac neural crest and...
Genesis - issue: 5 - volume: 53 - pages: 337-345.

Heart valve development begins with the endothelial-to-mesenchymal transition (EMT) of endocardial cells. Although lineage studies have demonstrated contributions from cardiac neural crest and...
Genesis - issue: 5 - volume: 53 - pages: 337-345.

Background Preclinical testing of potential therapies for Duchenne muscular dystrophy (DMD) is conducted predominantly of the mdx mouse. But lack of a detailed quantitative description of the...
Skelet Muscle - issue: - volume: 5 - pages: .

Heart valve development begins with the endothelial-to-mesenchymal transition (EMT) of endocardial cells. Although lineage studies have demonstrated contributions from cardiac neural crest and...
Genesis - issue: 5 - volume: 53 - pages: 337-345.

The list of rare inherited disorders with renal involvement is rapidly growing. Many are single gene diseases affecting children, but cases are not restricted to pediatrics and diagnosis is often...
Kidney Int. - issue: 5 - volume: 87 - pages: 901-908.

Arch Pediatr - issue: 5 - volume: 22 - pages: 562-563.

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.

Short- and long-scales intra- and inter-chromosomal interactions are linked to gene transcription, but the molecular events underlying these structures and how they affect cell fate decision during...
Nat Commun - issue: - volume: 6 - pages: 6749.