E-LIB Suche - Ergebnisse für: Neilson, Derek E

1

FDXR variants cause adrenal insufficiency and atypical sexu..:

Pignatti, Emanuele ; Slone, Jesse ; Gómez Cano, María Ángeles...
JCI Insight. , 2024

Link: https://doi.org/10.1172/..

2

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain. 147 (2023) 1 - p. 311-324 , 2023

Link: https://doi.org/10.1093/..

3

Systematic studies in acute necrotizing encephalopathy of c..:

Neilson, Derek E.
Developmental Medicine & Child Neurology. 64 (2022) 8 - p. 937-938 , 2022

Link: https://doi.org/10.1111/..

4

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

Mattison, Kari A ; Tossing, Gilles ; Mulroe, Fred...
Brain. 146 (2022) 4 - p. 1357-1372 , 2022

Link: https://doi.org/10.1093/..

5

A Novel Variant of ATP5MC3 Associated with Both Dystonia an..:

Neilson, Derek E. ; Zech, Michael ; Hufnagel, Robert B....
Movement Disorders. 37 (2021) 2 - p. 375-383 , 2021

Link: https://doi.org/10.1002/..

6

Fetal brain small vessel disease 1 caused by a novel mutati..:

England, Elizabeth C. ; Cornejo, Patricia ; Neilson, Derek E...
Pediatric Radiology. 51 (2020) 3 - p. 480-484 , 2020

Link: https://doi.org/10.1007/..

7

Central Diabetes Insipidus in a Patient With NFKB2 Mutation..:

Nasomyont, Nat ; Lindsley, Andrew W ; Assa'ad, Amal...
The Journal of Clinical Endocrinology & Metabolism. 104 (2019) 9 - p. 4051-4057 , 2019

Link: https://doi.org/10.1210/..

8

The Clinical Utility of a Single-Nucleotide Polymorphism Mi..:

Hrabik, Sarah A. ; Standridge, Shannon M. ; Greiner, Hansel M....
Journal of Child Neurology. 30 (2015) 13 - p. 1770-1777 , 2015

Link: https://doi.org/10.1177/..

9

Activating PIK3CA alleles and lymphangiogenic phenotype of ..:

Osborn, Alexander J. ; Dickie, Peter ; Neilson, Derek E....
Human Molecular Genetics. 24 (2014) 4 - p. 926-938 , 2014

Link: https://doi.org/10.1093/..

10

Familial 9q22.3 microduplication spanning PTCH1 causes shor..:

Izumi, Kosuke ; Hahn, Amanda ; Christ, Laurie..
American Journal of Medical Genetics Part A. 155 (2011) 6 - p. 1384-1389 , 2011

Link: https://doi.org/10.1002/..

11

Late manifestations of tricho‐rhino‐pharangeal syndrome in ..:

Izumi, Kosuke ; Takagi, Masaki ; Parikh, Aditi S....
American Journal of Medical Genetics Part A. 152A (2010) 8 - p. 2115-2119 , 2010

Link: https://doi.org/10.1002/..

12

Recurrent acute necrotizing encephalopathy following influe..:

GIKA, ARTEMIS D ; RICH, PHILIP ; GUPTA, SACHIN..
Developmental Medicine & Child Neurology. 52 (2009) 1 - p. 99-102 , 2009

Link: https://doi.org/10.1111/..

13

Cohen syndrome in the Ohio Amish:

Falk, Marni J. ; Feiler, Heidi S. ; Neilson, Derek E....
American Journal of Medical Genetics Part A. 128A (2004) 1 - p. 23-28 , 2004

Link: https://doi.org/10.1002/..

14

Autosomal dominant acute necrotizing encephalopathy maps to..:

Neilson, Derek E. ; Feiler, Heidi S. ; Wilhelmsen, Kirk C....
Annals of Neurology. 55 (2004) 2 - p. 291-294 , 2004

Link: https://doi.org/10.1002/..

15

Mixed clefting type in Rapp‐Hodgkin syndrome:

Neilson, Derek E. ; Brunger, Jeanne W. ; Heeger, Shauna..
American Journal of Medical Genetics. 108 (2002) 4 - p. 281-284 , 2002

Link: https://doi.org/10.1002/..