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Autor/in
- Meinecke, Peter
- Kutsche, Kerstin 5
- Alawi, Malik 4
- Harms, Frederike L 3
- Gal, Andreas 2
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11 Einträge gefunden
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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
- Schneeberger, Pauline E
- von Elsner, Leonie
- Barker, Emma L
- Meinecke, Peter
- Marquardt, Iris
- Alawi, Malik
- Steindl, Katharina
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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
- Karaca, Ender
- Posey, Jennifer E
- Bostwick, Bret
- Liu, Pengfei
- Gezdirici, Alper
- Yesil, Gozde
- Coban Akdemir, Zeynep
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Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
- Kortüm, Fanny
- Marquardt, Iris
- Alawi, Malik
- Korenke, Georg Christoph
- Spranger, Stephanie
- Meinecke, Peter
- Kutsche, Kerstin
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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
- Brownstein, Catherine A
- Towne, Meghan C
- Luquette, Lovelace J
- Harris, David J
- Marinakis, Nicholas S
- Meinecke, Peter
- Kutsche, Kerstin
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Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
- Jae, Lucas T
- Raaben, Matthijs
- Riemersma, Moniek
- van Beusekom, Ellen
- Blomen, Vincent A
- Velds, Arno
- Kerkhoven, Ron M
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Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
- Harmsen, May-Britt
- Azzarello-Burri, Silvia
- González, García
- Mar, M
- Gillessen-Kaesbach, Gabriele
- Meinecke, Peter
- Müller, Dietmar
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A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.
2005 - Forschungsinformationssystem des UKE