Facetten
Zugriff
Einrichtung
Medientyp
- Text 4
Karte
Erscheinungsjahr
Autor/in
- Alawi, Malik
- Schneeberger, Pauline E
- von Elsner, Leonie 2
- Abdel-Salam, Ghada M H 1
- Alfadhel, Majid 1
- alle zeigen
Sprache
- Englisch 4
4 Einträge gefunden
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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
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Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
- Holling, Tess
- Nampoothiri, Sheela
- Tarhan, Bedirhan
- Schneeberger, Pauline E
- Vinayan, Kollencheri Puthenveettil
- Yesodharan, Dhanya
- Roy, Arun Grace
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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