Search

Author/Creator Kimchi, Adva

1. Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. Issue 9 (14th July 2015)

Authors:
Lazar, Csilla H.; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben‐Simhon, Shiran; Obolensky, Alexey; Ben‐Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks‐Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand
Journal:
Human mutation
Issue:
Volume 36:Issue 9(2015:Sep.)
Page Start:
836
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children. Issue 6 (November 2021)

Authors:
Levinger, Nadav; Hendler, Karen; Banin, Eyal; Hanany, Mor; Kimchi, Adva; Mechoulam, Hadas; Meiner, Vardiella; Parag, Yoav; Sharon, Dror; Macarov, Michal; Yahalom, Claudia
Journal:
European journal of ophthalmology
Issue:
Volume 31:Issue 6(2021)
Page Start:
3349
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗