Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

Por Heller, R, Rauch, A, Luttgen, S, Schroder, B, Winterpacht, A
Publicado em 2003

Phenotypic variability in patients with generalised resistance to thyroid hormone.

Por Pohlenz, J, Wirth, S, Winterpacht, A, Wemme, H, Zabel, B, Schönberger, W
Publicado em 1995

MATN3 (matrilin‐3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis

Por Pullig, O, Tagariello, A, Schweizer, A, Swoboda, B, Schaller, P, Winterpacht, A
Publicado em 2007

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Por Golla, A, Lichmer, P, von Gernet, S, Winterpacht, A, Fairley, J, Murken, J, Schuffenhauer, S
Publicado em 1997

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between sm...

Por Winterpacht, A, Superti-Furga, A, Schwarze, U, Stöss, H, Steinmann, B, Spranger, J, Zabel, B
Publicado em 1996

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

Por FABER, J, WINTERPACHT, A, ZABEL, B, GNOINSKI, W, SCHINZEL, A, STEINMANN, B, SUPERTI-FURGA, A
Publicado em 2000

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints

Por Kocks, A, Endele, S, Heller, R, Schroder, B, Schafer, H, Stadtler, C, Makrigeorgi-Buter..., M, Winterpacht, A
Publicado em 2002

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non‐transcribed region

Por Tagariello, A, Heller, R, Greven, A, Kalscheuer, V M, Molter, T, Rauch, A, Kress, W, Winterpacht, A
Publicado em 2006

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Por Buiting, K, Greger, V, Brownstein, B H, Mohr, R M, Voiculescu, I, Winterpacht, A, Zabel, B, Horsthemke, B
Publicado em 1992

Systematic screening of an arrayed cDNA library by PCR.

Por Munroe, D J, Loebbert, R, Bric, E, Whitton, T, Prawitt, D, Vu, D, Buckler, A, Winterpacht, A, Zabel, B, Housman, D E
Publicado em 1995

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

Por McIntosh, I, Dreyer, S D, Clough, M V, Dunston, J A, Eyaid, W, Roig, C M, Montgomery, T, Ala-Mello, S, Kaitila, I, Winterpacht, A, Zabel, B, Frydman, M, Cole, W G, Francomano, C A, Lee, B
Publicado em 1998