5 Einträge gefunden

1. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

   1. Rau, Isabella
   2. Rauch, Anita
   3. Orth, Ulrike
   4. Schwarzer, Ulrich
   5. Trautmann, Udo
   6. Kutsche, Kerstin

   2007 - Forschungsinformationssystem des UKE
2. Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

   1. Abo-Dalo, Benjamin
   2. Kim, Hyung-Goo
   3. Roes, Melanie
   4. Stefanova, Margarita
   5. Higgins, Anne
   6. Shen, Yiping
   7. Mundlos, Stefan

   2007 - Forschungsinformationssystem des UKE
3. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

   1. Rau, Isabella
   2. Shaw, Gary M
   3. Kutsche, Kerstin

   2007 - Forschungsinformationssystem des UKE
4. Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

   1. Hyung-Goo, Kim
   2. Higgins Anne, W
   3. Herrick Steven, R
   4. Kishikawa, Shotaro
   5. Nicholson, Linda
   6. Kutsche, Kerstin
   7. Ligon Azra, H

   2007 - Forschungsinformationssystem des UKE
5. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

   1. Martínez-Garay, Isabel
   2. Tomás, Miguel
   3. Oltra, Silvestre
   4. Ramser, Juliane
   5. Moltó, Maria D
   6. Prieto, Félix
   7. Meindl, Alfons

   2007 - Forschungsinformationssystem des UKE