E-LIB Suche - Ergebnisse für: Jones Marilyn

1

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e. , 2023

Link: https://cris.maastrichtu..

2

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awad403. , 2023

Link: https://univ-rennes.hal...

3

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awad403. , 2023

Link: https://univ-rennes.hal...

4

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awad403. , 2023

Link: https://univ-rennes.hal...

5

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awad403. , 2023

Link: https://univ-rennes.hal...

6

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awad403. , 2023

Link: https://univ-rennes.hal...

7

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awad403. , 2023

Link: https://univ-rennes.hal...

8

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx. , 2023

Link: https://eprints.soton.ac..

9

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awad403. , 2023

Link: https://univ-rennes.hal...

10

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska ; Campbell, Ian...
qt0643544f. , 2022

Link: https://escholarship.org..

11

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf. , 2022

Link: https://discovery.ucl.ac..

12

X-linked neonatal-onset epileptic encephalopathy associated..:

Sun, Jia-Hui ; Chen, Jiang ; Valenzuela, Fernando Eduardo Ayala...
qt1v56z4bn. , 2021

Link: https://escholarship.org..

13

X-linked neonatal-onset epileptic encephalopathy associated..:

Sun, Jia Hui ; Chen, Jiang ; Valenzuela, Fernando Eduardo Ayala...
https://portal.findresearcher.sdu.dk/da/publications/c92262ea-135f-45a1-8fe2-bd5db1119580. , 2021

Link: https://portal.findresea..

14

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Re..:

Hughes, Joel ; Alkhunaizi, Ebba ; Kruszka, Paul...
qt0vd729sr. , 2020

Link: https://escholarship.org..

15

Pathogenic variants in USP7 cause a neurodevelopmental diso..:

Fountain, Michael D ; Oleson, David S ; Rech, Megan E...
https://research.vumc.nl/en/publications/c4760739-e720-4b20-8dd1-80b90cf6cf68. , 2019

Link: https://research.vumc.nl..