Suchergebnisse - "Duyzend, Michael H"

PubPharm (23)

1

Improving prenatal diagnosis through standards and aggregation

enthalten in: Prenatal diagnosis | 2024

von Duyzend, M. | Cacheiro, P. | Jacobsen, J. | +6

2

Improving prenatal diagnosis through standards and aggregation

enthalten in: Prenatal Diagnosis | 2024

von Duyzend, M. | Cacheiro, P. | Jacobsen, J. | +6

3

Beyond the exome : What's next in diagnostic testing for Mendelian conditions

enthalten in: American journal of human genetics | 2023

von Wojcik, M. | Reuter, C. | Marwaha, S. | +120

UpdateOf: ArXiv. 2023 Jan 18;:. - PMID 36713248

4

Beyond the exome : what's next in diagnostic testing for Mendelian conditions

enthalten in: ArXiv | 2023

von Wojcik, M. | Reuter, C. | Marwaha, S. | +20

UpdateIn: Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. - PMID 37541186

5

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

enthalten in: arXiv.org | 2023

von Wojcik, M. | Reuter, C. | Marwaha, S. | +21

6

50 Years Ago in TheJournalofPediatrics : Billions of Genomes: Mosaicism in Turner Syndrome

enthalten in: The Journal of pediatrics | 2022

von Duyzend, M.

7

50 Years Ago in TheJournalofPediatrics : Logic of Biochemical Discovery in Pompe Disease

enthalten in: The Journal of pediatrics | 2021

von Duyzend, M.

8

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

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

von Guo, H. | Duyzend, M. | Coe, B. | +13

9

Longitudinal report of child with de novo 16p11.2 triplication

enthalten in: Clinical case reports | 2018

von Wallace, A. | Hudac, C. | Steinman, K. | +6

10

The birth of a human-specific neural gene by incomplete duplication and gene fusion

enthalten in: Genome biology | 2017

von Dougherty, M. | Nuttle, X. | Penn, O. | +10