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Autor/in
- Kutsche, Kerstin
- Rosenberger, Georg 6
- Rau, Isabella 3
- Abo-Dalo, Benjamin 2
- Gal, Andreas 2
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24 Einträge gefunden
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EBF3 Neurodevelopmental Disorder
2021 - Forschungsinformationssystem des UKE -
Das Marfan-Syndrom als genetisch bedingte Aortenerkrankung
2021 - Forschungsinformationssystem des UKE -
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The face of Noonan syndrome: Does phenotype predict genotype.
- Allanson, Judith E
- Bohring, Axel
- Dörr, Helmuth-Guenther
- Dufke, Andreas
- Gillessen-Kaesbach, Gabrielle
- Horn, Denise
- König, Rainer
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A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.
2010 - Forschungsinformationssystem des UKE -
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A restricted spectrum of NRAS mutations causes Noonan syndrome.
- Cirstea, Ion C
- Kutsche, Kerstin
- Dvorsky, Radovan
- Gremer, Lothar
- Carta, Claudio
- Horn, Denise
- Roberts, Amy E
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Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.
2010 - Forschungsinformationssystem des UKE -
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Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
- Gremer, Lothar
- Alessandro, De Luca
- Merbitz-Zahradnik, Torsten
- Dallapiccola, Bruno
- Morlot, Susanne
- Tartaglia, Marco
- Kutsche, Kerstin
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Disruption of neurexin 1 associated with autism spectrum disorder.
- Kim, Hyung-Goo
- Kishikawa, Shotaro
- Higgins, Anne W
- Seong, Ihn-Sik
- Donovan Diana, J
- Shen, Yiping
- Lally, Eric
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Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
- Hyung-Goo, Kim
- Higgins Anne, W
- Herrick Steven, R
- Kishikawa, Shotaro
- Nicholson, Linda
- Kutsche, Kerstin
- Ligon Azra, H