E-LIB Suche - Ergebnisse für: Deardorff, Matthew A

1

Genomic analyses in Cornelia de Lange Syndrome and related ..:

Kaur, Maninder ; Blair, Justin ; Devkota, Batsal...
http://zaguan.unizar.es/record/127785. , 2023

Link: http://zaguan.unizar.es/..

2

ATP6V0C variants impair V-ATPase function causing a neurode..:

Mattison, Kari ; Tossing, Gilles ; Mulroe, Fred...
qt8hz365sf. , 2023

Link: https://escholarship.org..

3

Molecular Diagnostic Outcomes from 700 Cases: What Can We L..:

Murrell, Jill R ; Nesbitt, Addie May I ; Baker, Samuel W...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904168/. , 2022

Link: http://www.ncbi.nlm.nih...

4

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P ; Grimsrud, Kristin ; Lanoue, Louise...
qt9kg2s7vk. , 2022

Link: https://escholarship.org..

5

Clinical application of a scale to assess genomic healthcar..:

McConkie‐Rosell, Allyn ; Schoch, Kelly ; Sullivan, Jennifer...
qt76z1t0c4. , 2022

Link: https://escholarship.org..

6

Endocannabinoid dysfunction in neurological disease: neuro-..:

Bainbridge, Matthew N ; Mazumder, Aloran ; Ogasawara, Daisuke...
qt1tp7967m. , 2022

Link: https://escholarship.org..

7

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A ; Palomares, María...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939054/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Structural analysis of histone deacetylase 8 mutants associ..:

Osko, Jeremy ; Porter, Nicholas ; Decroos, Christophe...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jsb.2020.107681. , 2021

Link: https://hal.archives-ouv..

9

Pathogenic variants in SMARCA5 , a chromatin remodeler, cau..:

Li, Dong ; Wang, Qin ; Gong, Naihua N...
https://mediatum.ub.tum.de/1650351. , 2021

Link: https://mediatum.ub.tum...

10

Phenotypic expansion of CACNA1C-associated disorders to inc..:

Rodan, Lance ; Spillmann, Rebecca ; Kurata, Harley...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01232-8. , 2021

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

11

Delineating the molecular and phenotypic spectrum of the SE..:

Weerts, Marjolein J A ; Lanko, Kristina ; Guzmán-Vega, Francisco J...
https://www.nature.com/articles/s41436-021-01246-2. , 2021

Link: http://hdl.handle.net/10..

12

Phenotypic expansion of CACNA1C-associated disorders to inc..:

Rodan, Lance ; Spillmann, Rebecca ; Kurata, Harley...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01232-8. , 2021

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

13

The chromatin remodeler ISWI acts during Drosophila develop..:

Gong, Naihua N ; Dilley, Leela Chakravarti ; Williams, Charlette E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7888929/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Phenotypic expansion of CACNA1C-associated disorders to inc..:

Rodan, Lance ; Spillmann, Rebecca ; Kurata, Harley...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01232-8. , 2021

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

15

Delineating the molecular and phenotypic spectrum of the SE..:

Weerts, Marjolein J.A ; Lanko, Kristina ; Guzmán-Vega, Francisco J...
10.1038/s41436-021-01246-2. , 2021

Link: https://hdl.handle.net/1..