Suchergebnisse - "Paria, Nandina"

PubPharm (25)

1

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation

enthalten in: American journal of human genetics | 2023

von Rios, J. | Li, Y. | Paria, N. | +19

2

Trio-binning of a hinny refines the comparative organization of the horse and donkey X chromosomes and reveals novel species-specific features

enthalten in: Scientific reports | 2023

von Jevit, M. | Castaneda, C. | Paria, N. | +6

3

Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2023

von Paria, N. | Khalid, A. | Shen, B. | +7

4

Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1

enthalten in: Journal of Bone and Mineral Research | 2023

von Paria, N. | Khalid, A. | Shen, B. | +7

5

Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2021

von Rios, J. | Denton, K. | Russell, J. | +20

6

Genetic association and characterization of FSTL5 in isolated clubfoot

enthalten in: Human molecular genetics | 2021

von Khanshour, A. | Kidane, Y. | Kozlitina, J. | +15

7

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

enthalten in: American journal of human genetics | 2018

von Logan, C. | Murray, J. | Parry, D. | +57

8

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci

enthalten in: Human molecular genetics | 2018

von Khanshour, A. | Kou, I. | Fan, Y. | +23

9

Horse Y chromosome assembly displays unique evolutionary features and putative stallion fertility genes

enthalten in: Nature communications | 2018

von Janečka, J. | Davis, B. | Ghosh, S. | +17

10

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

enthalten in: American journal of human genetics | 2015

von Gray, M. | Kannu, P. | Sharma, S. | +29