Facetten
Zugriff
Einrichtung
Medientyp
- Text 21
Karte
Erscheinungsjahr
Autor/in
- Kloth, Katja
- Hempel, Maja 6
- Bierhals, Tatjana 5
- Johannsen, Jessika 5
- Kortüm, Fanny 5
- alle zeigen
Sprache
21 Einträge gefunden
-
The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature
- Kloth, Katja
- Klohs, Stefan
- Bhullar, Jasmin
- Boettcher, Michael
- Hempel, Maja
- Trah, Julian
- Reinshagen, Konrad
-
-
Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort
- Kloth, Katja
- Obrecht, Denise
- Sturm, Dominik
- Pietsch, Torsten
- Warmuth-Metz, Monika
- Bison, Brigitte
- Mynarek, Martin
-
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
-
-
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE -
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
- Kloth, Katja
- Lozic, Bernarda
- Tagoe, Julia
- Hoffer, Mariëtte J V
- Van der Ven, Amelie
- Thiele, Holger
- Altmüller, Janine
-
-
-
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
2020 - Forschungsinformationssystem des UKE - frei zugänglich -
The microdeletion syndrome 20q11–q12:Case report on a rare but recurrent microdeletion syndrome, Das Mikrodeletionssyndrom 20q11–q12:Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom
2020 - Forschungsinformationssystem des UKE - frei zugänglich -
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
-
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
- Johannsen, Jessika
- Bierhals, Tatjana
- Deindl, Philipp
- Hecher, Laura
- Hermann, Katharina
- Hempel, Maja
- Kloth, Katja
-
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
- Kloth, Katja
- Renner, Sina
- Burmester, Gunter
- Steinemann, Doris
- Pabst, Brigitte
- Lorenz, Birgit
- Simon, Ronald
-
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
- Kloth, Katja
- Bierhals, Tatjana
- Johannsen, Jessika
- Harms, Frederike L
- Juusola, Jane
- Johnson, Mark C
- Grange, Dorothy K
-
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
- Kloth, Katja
- Synofzik, Matthis
- Kernstock, Christoph
- Schimpf-Linzenbold, Simone
- Schuettauf, Frank
- Neu, Axel
- Wissinger, Bernd
-
Dual antibody induction and de novo use of everolimus enable low-dose tacrolimus with early corticosteroid withdrawal in simultaneous pancreas-kidney transplantation
- Li, Jun
- Koch, Martina
- Kramer, Kathrin
- Kloth, Katja
- El Rahman Abu Ganim, Abd
- Scheidat, Silke
- Rinninger, Franz
-
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
- Harms, Frederike L
- Kloth, Katja
- Bley, Annette
- Denecke, Jonas
- Santer, René
- Lessel, Davor
- Hempel, Maja
-
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
- Xu, Linda
- Jensen, Hanne
- Johnston, Jennifer J
- Di Maria, Emilio
- Kloth, Katja
- Cristea, Ileana
- Sapp, Julie C
-