E-LIB Suche - Ergebnisse für: Hoffer, Mariette J. V.

1

The role of confined placental mosaicism in fetal growth re..:

Eggenhuizen, Geerke M. ; Go, Attie T. J. I. ; Sauter, Zoë...
Prenatal Diagnosis. 44 (2024) 3 - p. 289-296 , 2024

2

Stretch-activated ion channel TMEM63B associates with devel..:

Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1356-1376 , 2023

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

3

Triplications of chromosome 1p36.3, including the genes GAB..:

Pelgrims, Elise ; Lynch, Sally Ann ; Hannes, Laurens...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1889-1899 , 2023

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

4

Neurodevelopmental and other phenotypes recurrently associa..:

Sewani, Soha ; Azamian, Mahshid S. ; Mendelsohn, Bryce A....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

5

Episignature Mapping of TRIP12 Provides Functional Insight ..:

van der Laan, Liselot ; Rooney, Kathleen ; Alders, Mariëlle...
International Journal of Molecular Sciences. 23 (2022) 22 - p. 13664 , 2022

Link: https://doi.org/10.3390/..

6

Biallelic variants in CENPF causing a phenotype distinct fr..:

Cappuccio, Gerarda ; Brillante, Simona ; Tammaro, Roberta...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 1 - p. 102-108 , 2022

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

7

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics. 109 (2022) 7 - p. 1344 , 2022

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

8

Hearing loss, cleft palate, and congenital hip dysplasia in..:

Koene, Saskia ; Knijnenburg, Jeroen ; Hoffer, Mariette J. V....
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1578-1582 , 2022

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

9

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics. 109 (2022) 6 - p. 1140-1152 , 2022

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

10

Does non‐invasive prenatal testing affect the livebirth pre..:

de Groot‐van der Mooren, Maurike ; de Graaf, Gert ; Weijerman, Michel E...
Prenatal Diagnosis. 41 (2021) 10 - p. 1351-1359 , 2021

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

11

Prenatal exome sequencing: A useful tool for the fetal neur..:

de Koning, Maayke A. ; Hoffer, Mariëtte J. V. ; Nibbeling, Esther A. R....
Clinical Genetics. 101 (2021) 1 - p. 65-77 , 2021

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

12

ANK3 related neurodevelopmental disorders: expanding the sp..:

Kloth, Katja ; Lozic, Bernarda ; Tagoe, Julia...
neurogenetics. 22 (2021) 4 - p. 263-269 , 2021

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

13

Non‐invasive prenatal diagnosis for translocation carriers—..:

Srebniak, Malgorzata I. ; Jehee, Fernanda S. ; Joosten, Marieke...
Acta Obstetricia et Gynecologica Scandinavica. 100 (2021) 11 - p. 2036-2043 , 2021

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

14

The prevalence of genetic diagnoses in fetuses with severe ..:

van Nisselrooij, Amber E.L. ; Lugthart, Malou A. ; Clur, Sally-Ann...
Genetics in Medicine. 22 (2020) 7 - p. 1206-1214 , 2020

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

15

Distinct effects on mRNA export factor GANP underlie neurol..:

Tyynismaa, Henna ; Ylikallio, Emil ; Stewart, Murray...
Human Molecular Genetics. 29 (2020) 9 - p. 1426-1439 , 2020

Link: https://doi.org/10.1093/..