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1

TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 512 KB

english, 2015

2

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 80 KB

english, 2015

3

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

Ronen Spiegel, Yoseph Horovitz, Hartmut Peters, Fikret Erdogan, Ilana Chervinsky, Stavit A. Shalev

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 170 KB

english, 2009

4

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Ronen Spiegel, Avraham Shaag, Simon Edvardson, Hanna Mandel, Polina Stepensky, Stavit A. Shalev, Yoseph Horovitz, Ophry Pines, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 709 KB

english, 2009

5

Pylephlebitis due to perforated appendicitis in a teenager

Carina Levin, Ariel Koren, Dan Miron, Dimitry Lumelsky, Elchanan Nussinson, Leonardo Siplovich, Yoseph Horovitz

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

6

Expanding the clinical spectrum of SLC29A3 gene defects

Ronen Spiegel, Simon T. Cliffe, Michael F. Buckley, Yanick J. Crow, Jill Urquhart, Yoseph Horovitz, Yardena Tenenbaum-Rakover, William G. Newman, Dian Donnai, Stavit A. Shalev

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 456 KB

english, 2010

7

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

Ronen Spiegel, Estela Area Gomez, Hasan O. Akman, Sindu Krishna, Yoseph Horovitz, Salvatore DiMauro

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 437 KB

english, 2009

8

Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome

Jamal Mahamid, Avraham Lorber, Yoseph Horovitz, Stavit A. Shalev…

Journal:

Pediatric Cardiology

Year:

2013

Language:

english

File:

PDF, 222 KB

english, 2013

9

Establishing hospital admission criteria of pediatric Henoch–Schonlein purpura

Masarweh, Kamal, Horovitz, Yoseph, Avital, Avi, Spiegel, Ronen

Journal:

Rheumatology International

Year:

2014

Language:

english

File:

PDF, 221 KB

english, 2014

10

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

Mandel, Hanna, Katsanelson, Ksenya Cohen, Khayat, Morad, Chervinsky, Ilana, Vladovski, Eugene, Iancu, Theodor C., Indelman, Margarita, Horovitz, Yoseph, Sprecher, Eli, Shalev, Stavit A., Spiegel, Rone

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 7.17 MB

english, 2014

11

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1 : insights into the natural history of a rare disorder

Shalev, Stavit A, Tenenbaum-Rakover, Yardena, Horovitz, Yoseph, Paz, Veronica P, Ye, Honggang, Carmody, David, Highland, Heather M, Boerwinkle, Eric, Hanis, Craig L, Muzny, Donna M, Gibbs, Richard A,

Journal:

Pediatric Diabetes

Year:

2014

Language:

english

File:

PDF, 472 KB

english, 2014

12

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 659 KB

english, 2014

13

10.1097/00003072-200305000-00019

BYKOV, SERGEY, GARTY, IZAK, SPIEGEL, RONEN, LUMELSKY, DIMITRY, HOROVITZ, YOSEPH

Journal:

Clinical Nuclear Medicine

Year:

2003

Language:

english

File:

PDF, 1.92 MB

english, 2003

14

Association of Prolonged Fever and Hypernatremia: Rare Presentation of Hypothalamic/Third Ventricle Tumor in a Toddler

Spiegel, Ronen, Constantini, Shlomi, Gavriel, Herzel, Siomin, Vitali, Horovitz, Yoseph

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2002

Language:

english

File:

PDF, 239 KB

english, 2002

15

Hypereosinophilic Syndrome in a Child Presenting as Eosinophilic Pharyngitis

Spiegel, Ronen, Zalman, Luci, Gavriel, Herzel, Horovitz, Yoseph

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2003

Language:

english

File:

PDF, 203 KB

english, 2003

16

“Bearded Infant” Appearance on Bone and Ga-67 Scintigraphy in a Child with Localized Mandibular Caffey’s Disease

BYKOV, SERGEY, GARTY, IZAK, SPIEGEL, RONEN, LUMELSKY, DIMITRY, HOROVITZ, YOSEPH

Journal:

Clinical Nuclear Medicine

Year:

2003

Language:

english

File:

PDF, 1.92 MB

english, 2003

17

Association of Chronic Symptomatic Neutropenia With the Triple A Syndrome

Spiegel, Ronen, Shalev, Stavit, Huebner, Angela, Horovitz, Yoseph

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2005

Language:

english

File:

PDF, 59 KB

english, 2005

18

Acute Human Parvovirus B-19 Infection in Hospitalized Children

Miron, Dan, Luder, Anthony, Horovitz, Yoseph, Izkovitz, Andrey, Shizgreen, Irena, David, Eliel Ben, Ohnona, Frederic S., Schlesinger, Yechiel

Journal:

Pediatric Infectious Disease Journal

Year:

2006

Language:

english

File:

PDF, 346 KB

english, 2006

19

Acute neonatal suppurative parotitis: case reports and review

Spiegel, Ronen, Miron, Dan, Sakran, Waheeb, Horovitz, Yoseph

Journal:

Pediatric Infectious Disease Journal

Year:

2004

Language:

english

File:

PDF, 83 KB

english, 2004

20

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis

Horovitz, Yoseph, Tanous, Osama, Khayat, Morad, Shaker, Munir, Shalev, Stavit, Spiegel, Ronen

Journal:

International Journal of Rheumatic Diseases

Year:

2016

Language:

english

File:

PDF, 92 KB

english, 2016

21

Evaluating platelet function disorders in children with bleeding tendency – A single center study

Tanous, Osama, Steinberg Shemer, Orna, Yacobovich, Joanne, Zoldan, Meira, Horovitz, Yoseph, Yaniv, Isaac, Rabizadeh, Esther, Tamary, Hannah, Nakav, Sigal, Lahav, Judith

Journal:

Year:

2017

Language:

english

File:

PDF, 602 KB

english, 2017

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