E-LIB Suche - Ergebnisse für: Banne, Ehud

1

Autosomal Dominant, Long-Standing Dysglycemia in 2 Families..:

Hanukoglu, Aaron ; Banne, Ehud ; Lev, Dorit.
Clinical Medicine Insights: Endocrinology and Diabetes. 17 (2024) - p. , 2024

Link: https://doi.org/10.1177/..

2

Glycerol Phenylbutyrate Treatment of 2 Patients With Monoca..:

Zung, Amnon ; Sonntag, Niklas ; Schweizer, Ulrich..
The Journal of Clinical Endocrinology & Metabolism. , 2024

Link: https://doi.org/10.1210/..

3

Clinical characteristics of a large familial cohort with Me..:

Rosenblum, Rachel Chava ; Hirsch, Dania ; Grozinsky-Glasberg, Simona...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family ..:

Zung, Amnon ; Barash, Galia ; Banne, Ehud.
Hormone Research in Paediatrics. 96 (2023) 5 - p. 473-482 , 2023

Link: https://doi.org/10.1159/..

5

Modeling genetic epileptic encephalopathies using brain org..:

Steinberg, Daniel J ; Repudi, Srinivasarao ; Saleem, Afifa...
EMBO Molecular Medicine. 13 (2021) 8 - p. , 2021

Link: https://doi.org/10.15252..

6

Neurological Disorders Associated with WWOX Germline Mutati..:

Banne, Ehud ; Abudiab, Baraa ; Abu-Swai, Sara...
Cells. 10 (2021) 4 - p. 824 , 2021

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

7

The effects of the COVID-19 pandemic on patients with lysos..:

Kristal, Eyal ; Pode-Shakked, Ben ; Hazan, Guy...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

8

Prenatal clubfoot increases the risk for clinically signifi..:

Singer, Amihood ; Maya, Idit ; Banne, Ehud...
Early Human Development. 145 (2020) - p. 105047 , 2020

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

9

De novoSTXBP1mutation in a child with developmental delay a..:

Banne, Ehud ; Falik‐Zaccai, Tzipora ; Brielle, Esther...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 183 (2020) 7 - p. 412-422 , 2020

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

10

The role of orotic acid measurement in routine newborn scre..:

Staretz‐Chacham, Orna ; Daas, Suha ; Ulanovsky, Igor...
Journal of Inherited Metabolic Disease. 44 (2020) 3 - p. 606-617 , 2020

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

11

Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads..:

Carbonell, Abigail U. ; Cho, Chang Hoon ; Tindi, Jaafar O....
Nature Communications. 10 (2019) 1 - p. , 2019

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

12

Chromosomal Microarray Analysis Results From Pregnancies Wi..:

Sagi-Dain, Lena ; Maya, Idit ; Reches, Adi...
Obstetrics & Gynecology. 132 (2018) 6 - p. 1368-1375 , 2018

Link: https://doi.org/10.1097/..

13

Microarray analysis in pregnancies with isolated unilateral..:

Sagi-Dain, Lena ; Maya, Idit ; Peleg, Amir...
Pediatric Research. 83 (2018) 4 - p. 825-828 , 2018

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

14

De novo mutations in GRIN1 cause extensive bilateral polymi..:

Fry, Andrew E ; Fawcett, Katherine A ; Zelnik, Nathanel...
Brain. 141 (2018) 3 - p. 698-712 , 2018

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

15

Variants in SART3 cause a spliceosomopathy characterised by..:

Ayers, Katie ; Eggers, Stefanie ; Rollo, Ben...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0. , 2023

Link: https://hal.science/hal-..