Facetten
Zugriff
Einrichtung
Medientyp
- Text 17
Karte
Erscheinungsjahr
Autor/in
- Harms, Frederike L
- Alawi, Malik 7
- Kutsche, Kerstin 7
- Meinecke, Peter 3
- Bierhals, Tatjana 2
- alle zeigen
Sprache
- Englisch 17
17 Einträge gefunden
-
-
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
- von Elsner, Leonie
- Chai, Guoliang
- Schneeberger, Pauline E
- Harms, Frederike L
- Casar, Christian
- Qi, Minyue
- Alawi, Malik
-
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
- Knapp, Karen M
- Jenkins, Danielle E
- Sullivan, Rosie
- Harms, Frederike L
- von Elsner, Leonie
- Ockeloen, Charlotte W
- de Munnik, Sonja
-
-
Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
- Danyukova, Tatyana
- Ludwig, Nataniel F
- Velho, Renata Voltolini
- Harms, Frederike L
- Güneş, Nilay
- Tidow, Henning
- Schwartz, Ida V
-
-
-
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
-
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
- Velho, Renata Voltolini
- Harms, Frederike L
- Danyukova, Tatyana
- Ludwig, Nataniel F
- Friez, Michael J
- Cathey, Sara S
- Filocamo, Mirella
-
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
-
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
-
-
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
- Harms, Frederike L
- Alawi, Malik
- Amor, David J
- Tan, Tiong Y
- Cuturilo, Goran
- Lissewski, Christina
- Brinkmann, Julia
-
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
- Harms, Frederike L
- Nampoothiri, Sheela
- Anazi, Shams
- Yesodharan, Dhanya
- Alawi, Malik
- Kutsche, Kerstin
- Alkuraya, Fowzan S
-
-