E-LIB Suche - Ergebnisse für: Mark, Paul R.

1

Heterozygous loss-of-function variants in DOCK4 cause neuro..:

Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret...
Human Genetics. 143 (2024) 3 - p. 455-469 , 2024

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

2

NAD+ deficiency in human congenital malformations and misca..:

Mark, Paul R.
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2834-2849 , 2022

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

3

Further characterization of Borjeson‐Forssman‐Lehmann syndr..:

Gerber, Céline B. ; Fliedner, Anna ; Bartsch, Oliver...
Clinical Genetics. 102 (2022) 3 - p. 182-190 , 2022

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

4

Two cases of different genetic variants of alveolar capilla..:

Diaz-Frias, Josue ; Mark, Paul R. ; Aregullin, E. Oliver
Cardiology in the Young. 31 (2021) 8 - p. 1368-1370 , 2021

Link: https://doi.org/10.1017/..

5

Lethal renal anomalies in a fetus with 21q22.11‐q22.12 dele..:

Dinh, Kathleen ; Mark, Paul R.
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 3060-3063 , 2020

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

6

Variants in TCF20 in neurodevelopmental disability: descrip..:

Torti, Erin ; Keren, Boris ; Palmer, Elizabeth E....
Genetics in Medicine. 21 (2019) 9 - p. 2036-2042 , 2019

Link: https://doi.org/10.1038/..

7

Clinical spectrum of BCS1L Mitopathies and their underlying..:

Baker, Rachael A. ; Priestley, Jessica R. C. ; Wilstermann, Amy M...
American Journal of Medical Genetics Part A. 179 (2018) 3 - p. 373-380 , 2018

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

8

Mutations inCEP120cause Joubert syndrome as well as complex..:

Roosing, Susanne ; Romani, Marta ; Isrie, Mala...
Journal of Medical Genetics. 53 (2016) 9 - p. 608-615 , 2016

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

9

Comment on critical region for talipes equinovarus in patie..:

Tecos, Maria ; Mark, Paul R.
European Journal of Medical Genetics. 58 (2015) 4 - p. 243 , 2015

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

10

Understanding nanoparticle assembly: A simulation approach ..:

Mark, Paul R. ; Fabris, Laura
Journal of Colloid and Interface Science. 369 (2012) 1 - p. 134-143 , 2012

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

11

Association of a p.Pro786Leu variant in COL2A1 with mild sp..:

Mark, Paul R. ; Torres‐Martinez, Wilfredo ; Lachman, Ralph S..
American Journal of Medical Genetics Part A. 155 (2010) 1 - p. 174-179 , 2010

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

12

Waveguide mode imaging and dispersion analysis with teraher..:

Mitrofanov, Oleg ; Tan, Thomas ; Mark, Paul R...
Applied Physics Letters. 94 (2009) 17 - p. , 2009

Link: https://doi.org/10.1063/..

13

Nanomechanical Measurement of the Brownian Force Noise in a..:

Ari, Atakan B. ; Hanay, M. Selim ; Paul, Mark R..
Nano Letters. 21 (2020) 1 - p. 375-381 , 2020

Link: https://doi.org/10.1021/..

14

DNA-graphene interactions during translocation through nano..:

Patel, Hiral N. ; Carroll, Ian ; Lopez, Rodolfo...
PLOS ONE. 12 (2017) 2 - p. e0171505 , 2017

Link: https://doi.org/10.1371/..

15

Dynamics of single-stranded DNA tethered to a solid:

Radiom, Milad ; Paul, Mark R ; Ducker, William A
Nanotechnology. 27 (2016) 25 - p. 255701 , 2016

Link: https://doi.org/10.1088/..