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Natalia Simanovsky

Showing results (71-80 of 80) with videos related to

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Pediatric Dermatology|April 1, 2015
Two Novel Homozygous Desmoplakin Mutations in Carvajal SyndromeVered Molho-Pessach, Sivan Sheffer, Rula Siam, et al.
Harefuah|May 23, 2017
[APPROPRIATENESS CRITERIA FOR CARDIAC MRI - A JOINT POSITION PAPER FROM THE ISRAELI RADIOLOGICAL SOCIETY AND THE ISRAEL HEART SOCIETY]Orly Goitein, Galit Aviram, Naama Bogot, et al.
World Journal of Surgery|March 3, 2017
Delayed Laparoscopic Cholecystectomy for Acute Calculous Cholecystitis: Is it Time for a Change?Jonathan B Yuval, Ido Mizrahi, Haggi Mazeh, et al.
Pediatric Pulmonology|March 11, 2021
How abnormal is the normal? Clinical characteristics of CF patients with normal FEV<sub>1</sub>Malena Cohen-Cymberknoh, Elad Ben Meir, Silvia Gartner, et al.
Journal of Medical Genetics|March 24, 2017
Mutations in <i>EFL1</i>, an <i>SBDS</i> partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndromePolina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, et al.
Blood|April 20, 2013
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancyPolina Stepensky, Ann Saada, Marianne Cowan, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Haematologica|July 2, 2016
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humansCyrill Schipp, Schafiq Nabhani, Kirsten Bienemann, et al.
The Lancet. Infectious Diseases|December 13, 2025
Lessons derived from a 3-year congenital cytomegalovirus screening programme in Israel: a prospective population-based cohort studySmadar Eventov Friedman, Noa Ofek Shlomai, Esther Oiknine-Djian, et al.
Respiratory Medicine|September 27, 2017
Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary DyskinesiaMalena Cohen-Cymberknoh, Nir Weigert, Alex Gileles-Hillel, et al.
Pageof 8

Showing results (71-80 of 80) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 80 results.
Pediatric Dermatology|April 1, 2015
Two Novel Homozygous Desmoplakin Mutations in Carvajal SyndromeVered Molho-Pessach, Sivan Sheffer, Rula Siam, et al.
Harefuah|May 23, 2017
[APPROPRIATENESS CRITERIA FOR CARDIAC MRI - A JOINT POSITION PAPER FROM THE ISRAELI RADIOLOGICAL SOCIETY AND THE ISRAEL HEART SOCIETY]Orly Goitein, Galit Aviram, Naama Bogot, et al.
World Journal of Surgery|March 3, 2017
Delayed Laparoscopic Cholecystectomy for Acute Calculous Cholecystitis: Is it Time for a Change?Jonathan B Yuval, Ido Mizrahi, Haggi Mazeh, et al.
Pediatric Pulmonology|March 11, 2021
How abnormal is the normal? Clinical characteristics of CF patients with normal FEV<sub>1</sub>Malena Cohen-Cymberknoh, Elad Ben Meir, Silvia Gartner, et al.
Journal of Medical Genetics|March 24, 2017
Mutations in <i>EFL1</i>, an <i>SBDS</i> partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndromePolina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, et al.
Blood|April 20, 2013
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancyPolina Stepensky, Ann Saada, Marianne Cowan, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Haematologica|July 2, 2016
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humansCyrill Schipp, Schafiq Nabhani, Kirsten Bienemann, et al.
The Lancet. Infectious Diseases|December 13, 2025
Lessons derived from a 3-year congenital cytomegalovirus screening programme in Israel: a prospective population-based cohort studySmadar Eventov Friedman, Noa Ofek Shlomai, Esther Oiknine-Djian, et al.
Respiratory Medicine|September 27, 2017
Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary DyskinesiaMalena Cohen-Cymberknoh, Nir Weigert, Alex Gileles-Hillel, et al.
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