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- Kutsche, Kerstin
- Alawi, Malik 12
- Rosenberger, Georg 12
- Kortüm, Fanny 11
- Bierhals, Tatjana 7
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81 Einträge gefunden
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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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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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Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.
2010 - Forschungsinformationssystem des UKE -
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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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
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The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.
2006 - Forschungsinformationssystem des UKE -
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