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Author/Creator Marom, D.

1. Detection of copy number variations in epilepsy using exome data. Issue 3 (25th January 2018)

Authors:
Tsuchida, N.; Nakashima, M.; Kato, M.; Heyman, E.; Inui, T.; Haginoya, K.; Watanabe, S.; Chiyonobu, T.; Morimoto, M.; Ohta, M.; Kumakura, A.; Kubota, M.; Kumagai, Y.; Hamano, S.‐I.; Lourenco, C.M.; Yahaya, N.A.; Ch'ng, G.‐S.; Ngu, L.‐H.; Fattal‐Valevski, A.; Weisz Hubshman, M.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 3(2018)
Page Start:
577
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies. (1st July 2022)

Authors:
Yaron, Y.; Ofen Glassner, V.; Mory, A.; Zunz Henig, N.; Kurolap, A.; Bar Shira, A.; Brabbing Goldstein, D.; Marom, D.; Ben Sira, L.; Baris Feldman, H.; Malinger, G.; Krajden Haratz, K.; Reches, A.
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 60:Number 1(2022)
Page Start:
59
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis. Issue 6 (19th March 2017)

Authors:
Weisz Hubshman, M.; Basel‐Vanagaite, L.; Krauss, A.; Konen, O.; Levy, Y.; Garty, B.Z.; Smirin‐Yosef, P.; Maya, I.; Lagovsky, I.; Taub, E.; Marom, D.; Gaash, D.; Shichrur, K.; Avigad, S.; Hayman‐Manzur, L.; Villa, A.; Sobacchi, C.; Shohat, M.; Yaniv, I.; Stein, J.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 6(2017)
Page Start:
902
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗