E-LIB Suche - Ergebnisse für: Miller, Kerry A.

1

BTB domain mutations perturbing KCTD15 oligomerisation caus..:

Miller, Kerry A ; Cruz Walma, David A ; Pinkas, Daniel M...
Journal of Medical Genetics. , 2024

Link: https://doi.org/10.1136/..

2

Associations between risk factors, developmental outcomes, ..:

Miller, Kerry ; Prokasky, Amanda ; Roberts, Holly..
Infant and Child Development. 32 (2023) 3 - p. , 2023

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

3

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023

Link: https://doi.org/10.1016/..

4

Examining early intervention referral patterns in neonatal ..:

Miller, Kerry ; Berentson, Grace ; Roberts, Holly..
Early Human Development. 172 (2022) - p. 105631 , 2022

Link: https://doi.org/10.1016/..

5

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin s..:

Nabais Sá, Maria J ; Miller, Kerry A ; McQuaid, Mary...
Journal of Medical Genetics. 59 (2021) 8 - p. 776-780 , 2021

Link: https://doi.org/10.1136/..

6

amplimap: a versatile tool to process and analyze targeted ..:

Koelling, Nils ; Bernkopf, Marie ; Calpena, Eduardo...
Bioinformatics. 36 (2020) 8 - p. 2643-2643 , 2020

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

7

Pre-meal active video game playing increased subjective app..:

Baker, Melissa ; de Zepetnek, Julia O. Totosy ; Gladanac, Branka...
Physiology & Behavior. 222 (2020) - p. 112931 , 2020

Link: https://doi.org/10.1016/..

8

Mechanistic and Therapeutic Advances in Rare Skeletal Disea..:

Lee, Brendan ; Pacifici, Maurizio ; Grant, Struan F A...
JBMR Plus. 3 (2019) S2 - p. , 2019

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

9

amplimap: a versatile tool to process and analyze targeted ..:

Koelling, Nils ; Bernkopf, Marie ; Calpena, Eduardo...
Bioinformatics. 35 (2019) 24 - p. 5349-5350 , 2019

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

10

De Novo and Inherited Loss-of-Function Variants in TLK2: Cl..:

Reijnders, Margot R.F. ; Miller, Kerry A. ; Alvi, Mohsan...
The American Journal of Human Genetics. 102 (2018) 6 - p. 1195-1203 , 2018

Link: https://doi.org/10.1016/..

11

A biallelic mutation in IL6ST encoding the GP130 co-recepto..:

Schwerd, Tobias ; Twigg, Stephen R.F. ; Aschenbrenner, Dominik...
Journal of Experimental Medicine. 214 (2017) 9 - p. 2547-2562 , 2017

Link: https://doi.org/10.1084/..

12

Pre‐Meal Television Viewing and Exercise on Subjective Appe..:

de Zepetnek, Julia O Totosy ; Da Silva, Melissa ; Miller, Kerry.
The FASEB Journal. 31 (2017) S1 - p. , 2017

Link: https://doi.org/10.1096/..

13

Diagnostic value of exome and whole genome sequencing in cr..:

Miller, Kerry A ; Twigg, Stephen R F ; McGowan, Simon J...
Journal of Medical Genetics. 54 (2016) 4 - p. 260-268 , 2016

Link: https://doi.org/10.1136/..

14

A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog ..:

Twigg, Stephen R.F. ; Hufnagel, Robert B. ; Miller, Kerry A....
The American Journal of Human Genetics. 98 (2016) 6 - p. 1256-1265 , 2016

Link: https://doi.org/10.1016/..

15

Olfr603, an orphan olfactory receptor, is expressed in mult..:

Baker, Naomi L. ; Miller, Kerry A. ; Newgreen, Donald F..
Gene Expression Patterns. 19 (2015) 1-2 - p. 30-35 , 2015

Link: https://doi.org/10.1016/..