E-LIB Suche - Ergebnisse für: Segel, Reeval

1

Exploring the factors affecting classification and reportin..:

Michaelson‐Cohen, Rachel ; Salzer, Liat Sheelo ; Brabbing‐Goldstein, Dana...
Prenatal Diagnosis. 44 (2024) 4 - p. 511-518 , 2024

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

2

SHaploseek is a sequencing-only, high-resolution method for..:

Backenroth, Daniel ; Altarescu, Gheona ; Zahdeh, Fouad...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

3

Carrier screening for Krabbe disease in an isolated inbred ..:

Ezer, Shlomit ; Zuckerman, Shachar ; Segel, Reeval.
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2555-2559 , 2022

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

4

Clinically Complex LRBA Deficiency Due to a Founder Allele ..:

Freund, Tal ; Baxter, Sarah K. ; Walsh, Tom...
Journal of Clinical Immunology. 43 (2022) 1 - p. 151-164 , 2022

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

5

Combining cytogenetic and genomic technologies for decipher..:

Michaelson-Cohen, Rachel ; Murik, Omer ; Zeligson, Sharon...
Molecular Genetics and Genomics. 297 (2022) 4 - p. 925-933 , 2022

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

6

The yield of chromosomal microarray in pregnancies with con..:

Sagi-Dain, Lena ; Singer, Amihood ; Segel, Reeval...
American Journal of Obstetrics and Gynecology. 225 (2021) 3 - p. 333.e1-333.e14 , 2021

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

7

Preimplantation genetic testing (PGT) for copy number varia..:

Rotshenker-Olshinka, Keren ; Srebnik Moshe, Naama ; Weiss, Omri...
Journal of Assisted Reproduction and Genetics. 38 (2021) 3 - p. 719-725 , 2021

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

8

Expanded clinical validation of Haploseek for comprehensive..:

Zeevi, David A. ; Backenroth, Daniel ; Hakam-Spector, Elinor...
Genetics in Medicine. 23 (2021) 7 - p. 1334-1340 , 2021

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

9

Cold‐sensitive phenotypes of a yeast null mutant of ARV1 su..:

Okai, Haruka ; Ikema, Ryoko ; Nakamura, Hiroki...
FEBS Letters. 594 (2020) 15 - p. 2431-2439 , 2020

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

10

The novel founder homozygous V225M mutation in the HSD17B3 ..:

Levy-Khademi, Floris ; Zeligson, Sharon ; Lavi, Eran...
Endocrine. 69 (2020) 3 - p. 650-654 , 2020

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

11

A defect in GPI synthesis as a suggested mechanism for the ..:

Segel, Reeval ; Aran, Adi ; Gulsuner, Suleyman...
neurogenetics. 21 (2020) 4 - p. 259-267 , 2020

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

12

Haploseek: a 24-hour all-in-one method for preimplantation ..:

Backenroth, Daniel ; Zahdeh, Fouad ; Kling, Yehuda...
Genetics in Medicine. 21 (2019) 6 - p. 1390-1399 , 2019

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

13

An immune tolerance approach using transient low-dose metho..:

Kazi, Zoheb B. ; Desai, Ankit K. ; Troxler, R. Bradley...
Genetics in Medicine. 21 (2019) 4 - p. 887-895 , 2019

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

14

Deficiency of Adenosine Deaminase 2 (DADA2):

, In: Textbook of Autoinflammation,

Ombrello, Amanda ; Segel, Reeval - p. 417-431 , 2019

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

15

Ganglioglioma, Epilepsy, and Intellectual Impairment due to..:

Gilboa, Tal ; Segel, Reeval ; Zeligson, Sharon..
Journal of Child Neurology. 33 (2018) 7 - p. 482-486 , 2018

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