E-LIB Suche - Ergebnisse für: Roifman, Maian

1

P804: Prenatal diagnosis of atypical Holt-Oram syndrome cau..:

Mackley, Michael ; Silver, Rachel ; Watkins, Nicholas...
Genetics in Medicine Open. 2 (2024) - p. 101712 , 2024

2

Expanding the phenotypic spectrum of NOTCH1 variants: clini..:

Stanley, Kaitlin J. ; Kalbfleisch, Kelsey J. ; Moran, Olivia M....
European Journal of Human Genetics. 32 (2024) 7 - p. 795-803 , 2024

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

3

Prenatal diagnosis of ROR‐2 related Robinow syndrome presen..:

Yang, Liying ; Shannon, Patrick ; Silver, Rachel...
Prenatal Diagnosis. 44 (2024) 5 - p. 653-656 , 2024

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

4

Building Healthy Babies: A Mixed-Methods Needs Assessment f..:

Li, Angela ; Mehra, Vrati M. ; Jones, Claire...
Journal of Obstetrics and Gynaecology Canada. 46 (2024) 6 - p. 102417 , 2024

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

5

Challenges experienced by genetic counselors while they pro..:

Moran, Olivia M. ; Flamenbaum, Kayla ; Myles Reid, Diane...
F&S Reports. 4 (2023) 4 - p. 353-360 , 2023

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

6

Anterior extension of the choroid plexus into the frontal h..:

Ashwal, Eran ; Blaser, Susan ; Leckie, Ashley...
Prenatal Diagnosis. 43 (2023) 6 - p. 756-762 , 2023

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

7

Diagnostic yield of genome sequencing for prenatal diagnosi..:

Wang, Yiming ; Greenfeld, Elena ; Watkins, Nicholas...
Prenatal Diagnosis. 42 (2022) 7 - p. 822-830 , 2022

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

8

Mapping the cellular origin and early evolution of leukemia..:

Wagenblast, Elvin ; Araújo, Joana ; Gan, Olga I....
Science. 373 (2021) 6551 - p. , 2021

Link: https://doi.org/10.1126/..

9

Heterozygous NOTCH1 deletion associated with variable conge..:

Roifman, Maian ; Chung, Brian Hon Yin ; Reid, Diane Myles...
Clinical Genetics. 99 (2021) 6 - p. 836-841 , 2021

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

10

Homozygous GLUL deletion is embryonically viable and leads ..:

Roifman, Maian ; Niles, Kirsten M. ; MacNeil, Lauren...
Clinical Genetics. 98 (2020) 6 - p. 613-619 , 2020

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

11

The variability ofSMARCA4‐relatedCoffin–Sirissyndrome: Do n..:

Li, Dong ; Ahrens‐Nicklas, Rebecca C. ; Baker, Janice...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2058-2067 , 2020

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

12

A large data resource of genomic copy number variation acro..:

Zarrei, Mehdi ; Burton, Christie L. ; Engchuan, Worrawat...
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

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

13

Impact of introduction of noninvasive prenatal testing on u..:

Al Toukhi, Samar ; Chitayat, David ; Keunen, Johannes...
Prenatal Diagnosis. 39 (2019) 7 - p. 544-548 , 2019

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

14

919: Impact of introduction of NIPT on uptake of genetic te..:

Altoukhi, Samar ; Chitayat, David ; Keunen, Johannes...
American Journal of Obstetrics and Gynecology. 220 (2019) 1 - p. S593-S594 , 2019

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

15

RAC1 Missense Mutations in Developmental Disorders with Div..:

Reijnders, Margot R.F. ; Ansor, Nurhuda M. ; Kousi, Maria...
The American Journal of Human Genetics. 101 (2017) 3 - p. 466-477 , 2017

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