11 Einträge gefunden

1. Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel

   1. Bauer, Christiane K
   2. Holling, Tess
   3. Horn, Denise
   4. Laço, Mário Nôro
   5. Abdalla, Ebtesam
   6. Omar, Omneya Magdy
   7. Alawi, Malik

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

   1. Zarate, Yuri A
   2. Uehara, Tomoko
   3. Abe, Kota
   4. Oginuma, Masayuki
   5. Harako, Sora
   6. Ishitani, Shizuka
   7. Lehesjoki, Anna-Elina

   2021 - Forschungsinformationssystem des UKE
3. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

   1. Knaus, Alexej
   2. Kortüm, Fanny
   3. Kleefstra, Tjitske
   4. Stray-Pedersen, Asbjørg
   5. Đukić, Dejan
   6. Murakami, Yoshiko
   7. Gerstner, Thorsten

   2019 - Forschungsinformationssystem des UKE
4. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

   1. Kakar, Naseebullah
   2. Horn, Denise
   3. Decker, Eva
   4. Sowada, Nadine
   5. Kubisch, Christian
   6. Ahmad, Jamil
   7. Borck, Guntram

   2018 - Forschungsinformationssystem des UKE
5. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

   1. Danyel, Magdalena
   2. Kortüm, Fanny
   3. Dathe, Katarina
   4. Kutsche, Kerstin
   5. Horn, Denise

   2018 - Forschungsinformationssystem des UKE
6. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

   1. Spielmann, Malte
   2. Kakar, Naseebullah
   3. Tayebi, Naeimeh
   4. Leettola, Catherine
   5. Nürnberg, Gudrun
   6. Sowada, Nadine
   7. Lupiáñez, Darío G

   2016 - Forschungsinformationssystem des UKE
7. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

   1. van Rahden, Vanessa A
   2. Fernandez-Vizarra, Erika
   3. Alawi, Malik
   4. Brand, Kristina
   5. Fellmann, Florence
   6. Horn, Denise
   7. Zeviani, Massimo

   2015 - Forschungsinformationssystem des UKE
8. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

   1. Kortüm, Fanny
   2. Das, Soma
   3. Flindt, Max
   4. Morris-Rosendahl, Deborah J
   5. Stefanova, Irina
   6. Goldstein, Amy
   7. Horn, Denise

   2011 - Forschungsinformationssystem des UKE
9. A restricted spectrum of NRAS mutations causes Noonan syndrome.

   1. Cirstea, Ion C
   2. Kutsche, Kerstin
   3. Dvorsky, Radovan
   4. Gremer, Lothar
   5. Carta, Claudio
   6. Horn, Denise
   7. Roberts, Amy E

   2010 - Forschungsinformationssystem des UKE
10. The face of Noonan syndrome: Does phenotype predict genotype.

    1. Allanson, Judith E
    2. Bohring, Axel
    3. Dörr, Helmuth-Guenther
    4. Dufke, Andreas
    5. Gillessen-Kaesbach, Gabrielle
    6. Horn, Denise
    7. König, Rainer

    2010 - Forschungsinformationssystem des UKE
11. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

    1. Zenker, Martin
    2. Horn, Denise
    3. Wieczorek, Dagmar
    4. Allanson, Judith
    5. Pauli, Silke
    6. van der Burgt, Ineke
    7. Doerr, Helmuth-Guenther

    2007 - Forschungsinformationssystem des UKE