Facetten
Zugriff
Einrichtung
Medientyp
- Text 25
Karte
Erscheinungsjahr
Autor/in
- Kortüm, Fanny
- Kutsche, Kerstin 10
- Alawi, Malik 8
- Kloth, Katja 4
- Rosenberger, Georg 4
- alle zeigen
Sprache
25 Einträge gefunden
-
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
- Nayak, Shalini S
- Schneeberger, Pauline E
- Patil, Siddaramappa J
- Arun, Karegowda M
- Suresh, Pujar V
- Kiran, Viralam S
- Siddaiah, Sateesh
-
-
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
- van der Ven, Amelie T
- Johannsen, Jessika
- Kortüm, Fanny
- Wagner, Matias
- Tsiakas, Konstantinos
- Bierhals, Tatjana
- Lessel, Davor
-
-
-
-
-
-
-
Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
- Mahler, Elisa A
- Johannsen, Jessika
- Tsiakas, Konstantinos
- Kloth, Katja
- Lüttgen, Sabine
- Mühlhausen, Chris
- Alhaddad, Bader
-
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
- Knaus, Alexej
- Kortüm, Fanny
- Kleefstra, Tjitske
- Stray-Pedersen, Asbjørg
- Đukić, Dejan
- Murakami, Yoshiko
- Gerstner, Thorsten
-
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
- Bauer, Christiane K
- Schneeberger, Pauline E
- Kortüm, Fanny
- Altmüller, Janine
- Santos-Simarro, Fernando
- Baker, Laura
- Keller-Ramey, Jennifer
-
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
2018 - Forschungsinformationssystem des UKE -
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
- Kortüm, Fanny
- Jamra, Rami Abou
- Alawi, Malik
- Berry, Susan A
- Borck, Guntram
- Helbig, Katherine L
- Tang, Sha
-
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
- Johannsen, Jessika
- Kortüm, Fanny
- Rosenberger, Georg
- Bokelmann, Kristin
- Schirmer, Markus A
- Denecke, Jonas
- Santer, René
-
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
-
-
-
-
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
- Abdollahpour, Hengameh
- Alawi, Malik
- Kortüm, Fanny
- Beckstette, Michael
- Seemanova, Eva
- Komárek, Vladimír
- Rosenberger, Georg