Anmelden/Registrieren
Erscheinungsjahr:
 
Zurück zur geteilten Ansicht
Ethylin Wang Jabs

Veröffentlichungen von Ethylin Wang Jabs zu Paznekas, William A. ->
weitere Veröffentlichungen von Ethylin Wang Jabs:
Characterization of reiterated human DNA with respect to mammalian X chromosome homology (1984)
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (1995)
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans (1995)
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene (1988)
Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes (1991)
Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism (1991)
Chromosomal localization of genes required for the terminal steps of oxidative metabolism: α and γ subunits of ATP synthase and the phosphate carrier (1994)
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 (1994)
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome (2004)
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion (2005)
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome (2000)
Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome (1996)
Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome (1997)
Veröffentlichungen zu Paznekas, William A.
Zurück zur geteilten Ansicht
Verfasser Titel Jahr absteigend sortierenaufsteigend sortieren
zeige Details
1
Przylepa, Kelly A., Paznekas, William, ... Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 13, No. 4 (1996), p. 492-494
Zugang: zum Volltext
ähnliche Vorschläge
1996
zeige Details
2
Howard, Timothy D., Paznekas, William A., ... Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 15, No. 1 (1997), p. 36-41
Zugang: zum Volltext
ähnliche Vorschläge
1997