Suchergebnisse - "Hu, Ping"

PubPharm (14)

1

Cohesin complex-associated holoprosencephaly

enthalten in: Brain : a journal of neurology | 2019

von Kruszka, P. | Berger, S. | Casa, V. | +32

CommentIn: Brain. 2020 Aug 1;143(8):e64. - PMID 32696056

2

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Hu, P. | Martinez, A. | Kruszka, P. | +3

3

Generic synthesis of small-sized hollow mesoporous organosilica nanoparticles for oxygen-independent X-ray-activated synergistic therapy

enthalten in: Nature communications | 2019

von Fan, W. | Lu, N. | Shen, Z. | +18

4

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling

enthalten in: Human mutation | 2018

von Roessler, E. | Hu, P. | Marino, J. | +16

5

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly

enthalten in: Human molecular genetics | 2018

von Hong, S. | Hu, P. | Roessler, E. | +2

6

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2018

von Weiss, K. | Kruszka, P. | Guillen Sacoto, M. | +18

7

BOC is a modifier gene in holoprosencephaly

enthalten in: Human mutation | 2017

von Hong, M. | Srivastava, K. | Kim, S. | +6

8

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

enthalten in: Human molecular genetics | 2016

von Hong, S. | Hu, P. | Marino, J. | +8

9

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients

enthalten in: Molecular genetics and metabolism | 2012

von Srivastava, K. | Hu, P. | Solomon, B. | +3

10

Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly

enthalten in: PloS one | 2012

von Roessler, E. | Hu, P. | Hong, S. | +10