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Zugriff
Einrichtung
Medientyp
- Text 4
Karte
Erscheinungsjahr
Autor/in
- Alawi, Malik
- Meinecke, Peter
- Harms, Frederike L 2
- Kutsche, Kerstin 2
- Marquardt, Iris 2
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Sprache
- Englisch 4
4 Einträge gefunden
-
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
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
-
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