11 Einträge gefunden

1. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

   1. Abdalla, Ebtesam
   2. Alawi, Malik
   3. Meinecke, Peter
   4. Kutsche, Kerstin
   5. Harms, Frederike L

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia

   1. Xu, Le
   2. Harms, Frederike L
   3. Chirasani, Venkat R
   4. Pasek, Daniel A
   5. Kortüm, Fanny
   6. Meinecke, Peter
   7. Dokholyan, Nikolay V

   2020 - Forschungsinformationssystem des UKE
3. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

   1. Schneeberger, Pauline E
   2. von Elsner, Leonie
   3. Barker, Emma L
   4. Meinecke, Peter
   5. Marquardt, Iris
   6. Alawi, Malik
   7. Steindl, Katharina

   2020 - Forschungsinformationssystem des UKE
4. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

   1. Karaca, Ender
   2. Posey, Jennifer E
   3. Bostwick, Bret
   4. Liu, Pengfei
   5. Gezdirici, Alper
   6. Yesil, Gozde
   7. Coban Akdemir, Zeynep

   2019 - Forschungsinformationssystem des UKE
5. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

   1. Kortüm, Fanny
   2. Marquardt, Iris
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Spranger, Stephanie
   6. Meinecke, Peter
   7. Kutsche, Kerstin

   2017 - Forschungsinformationssystem des UKE
6. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

   1. Brownstein, Catherine A
   2. Towne, Meghan C
   3. Luquette, Lovelace J
   4. Harris, David J
   5. Marinakis, Nicholas S
   6. Meinecke, Peter
   7. Kutsche, Kerstin

   2013 - Forschungsinformationssystem des UKE
7. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

   1. Jae, Lucas T
   2. Raaben, Matthijs
   3. Riemersma, Moniek
   4. van Beusekom, Ellen
   5. Blomen, Vincent A
   6. Velds, Arno
   7. Kerkhoven, Ron M

   2013 - Forschungsinformationssystem des UKE
8. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

   1. Harmsen, May-Britt
   2. Azzarello-Burri, Silvia
   3. González, García
   4. Mar, M
   5. Gillessen-Kaesbach, Gabriele
   6. Meinecke, Peter
   7. Müller, Dietmar

   2009 - Forschungsinformationssystem des UKE
9. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

   1. Zenker, Martin
   2. Lehmann, Katarina
   3. Schulz, Anna Leana
   4. Barth, Helmut
   5. Hansmann, Dagmar
   6. Koenig, Rainer
   7. Korinthenberg, Rudolf

   2007 - Forschungsinformationssystem des UKE
10. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

    1. Rau, Isabella
    2. Morleo, Manuela
    3. Rosenberger, Georg
    4. Iaconis, Daniela
    5. Orth, Ulrike
    6. Meinecke, Peter
    7. Lerer, Israela

    2006 - Forschungsinformationssystem des UKE
11. A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

    1. Stefanova, Margarita
    2. Meinecke, Peter
    3. Gal, Andreas
    4. Bolz, Hanno

    2005 - Forschungsinformationssystem des UKE