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

1

Functional hyposplenism is an important and underdiagnosed ..:

Scheuerman, O. ; Bar‐Sever, Z. ; Hoffer, V....
Acta Paediatrica. 103 (2014) 9 - p. , 2014

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

2

Anaphylaxis in Israel: Experience with 92 hospitalized chil..:

Hoffer, V. ; Scheuerman, O. ; Marcus, N....
Pediatric Allergy and Immunology. 22 (2011) 2 - p. 172-177 , 2011

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

3

Anaphylaxis in Children in Central Israel:

Garty, B. ; Hoffer, V. ; Marcus, N....
Journal of Allergy and Clinical Immunology. 117 (2006) 2 - p. S128 , 2006

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

4

Ganciclovir treatment in Ménétrier's disease:

Hoffer, V ; Finkelstein, Y ; Balter, J..
Acta Paediatrica. 92 (2003) 8 - p. 983-985 , 2003

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

5

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

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

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..