Borochowitz, Zvi U.: search on Z-Library

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1

Unconventional Energy Resources: 2013 Review

Simon, Amos J., Lev, Atar, Jeison, Marta, Borochowitz, Zvi U., Korn, David, Lerenthal, Yaniv, Somech, Raz

Journal:

Natural Resources Research

Year:

2014

Language:

english

File:

PDF, 14.41 MB

english, 2014

2

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

Adel Shalata, Haya Furman, Vardit Adir, Noam Adir, Yasir Hujeirat, Stavit A. Shalev, Zvi U. Borochowitz

Journal:

Year:

2010

Language:

english

File:

PDF, 394 KB

english, 2010

3

Familial Caffey's disease and late recurrence in a child

Zvi Borochowitz, David Gozal, Ines Misselevitch, Jamal Aunallah, Johanan H. Boss

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 674 KB

english, 1991

4

Down syndrome prevention program in a population with an older maternal age

Mordechai Shohat, Cyril Legum, Yitzhak Romem, ZVI Borochowitz, Gideon Bach, Boleslaw Goldman

Journal:

Obstetrics & Gynecology

Year:

1995

Language:

english

File:

PDF, 517 KB

english, 1995

5

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, St

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 310 KB

english, 2013

6

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

Walder, Roxanne Y., Landau, Daniel, Meyer, Peter, Shalev, Hanna, Tsolia, Maria, Borochowitz, Zvi, Boettger, Melanie Barbara, Beck, Gretel E., Englehardt, Richard K., Carmi, Rivka

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 1.06 MB

english, 2002

7

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David H. Zangen, Sarah F. Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas-Rothschild

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 690 KB

english, 2009

8

Detection of X Chromosome Aneuploidy Using Southern Blot Analysis During Routine Population-Based Screening for Fragile X Syndrome

Adir, Vardit, Shahak, Elena, Dar, Hanna, Borochowitz, Zvi U.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 110 KB

english, 2003

9

Attitudes of Israeli Muslims at Risk of Genetic Disorders towards Pregnancy Termination

Neter, Efrat, Wolowelsky, Yael, Borochowitz, Zvi U.

Journal:

Community Genetics

Year:

2005

Language:

english

File:

PDF, 76 KB

english, 2005

10

Achondrogenesis II–hypochondrogenesis: Variability versus heterogeneity

Zvi Borochowitz, Asher Ornoy, Ralph Lachman, Dr. David L. Rimoin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.56 MB

english, 1986

11

Kohlschütter-Tönz syndrome: Epilepsy, dementia, and amelogenesis imperfecta

Joël Zlotogora, Anna Fuks, Zvi Borochowitz, Yoram Tal

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 196 KB

english, 1993

12

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

Stavit A. Shalev, Ronen Spiegel, Zvi U. Borochowitz

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

13

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gin

Journal:

Nature Medicine

Year:

2019

Language:

english

File:

PDF, 11.39 MB

english, 2019

14

Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero-metacarpal (HM) type: Variation or heterogeneity?

Dr. Zvi Borochowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 526 KB

english, 1991

15

Nosology of omodysplasia

Zvi Borochowitz, Mila Barak, Silvia Hershkowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 80 KB

english, 1995

16

Upper limb malformations in chromosome 22qll deletions

Stavit A. Shalev, Dr. Hanna Dar, Hanna Barel, Zvi Borochowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1996

Language:

english

File:

PDF, 82 KB

english, 1996

17

Familial recurrent dislocation of patella with autosomal dominant mode of inheritance

Zvi Borochowitz, Michael Soudry, David G. Mendes

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 213 KB

english, 1988

18

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation

Shalev, Stavit A., Shalev, Eliezer, Reich, Dan, Borochowitz, Zvi U.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 255 KB

english, 1999

19

Absence of association of inherited thrombophilia with unexplained third trimester intrauterine fetal death

Ron Gonen, Noa Lavi, Dina Attias, Liliana Schliamser, Zvi Borochowitz, Elias Toubi

Journal:

American Journal of Obstetrics and Gynecology

Year:

2004

Language:

english

File:

PDF, 57 KB

english, 2004

20

Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance

Michael Jaffe, Jehuda Shapira, Zvi Borochowitz

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 409 KB

english, 1988

21

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 171 KB

english, 2014

22

Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

Simon, Amos J., Lev, Atar, Jeison, Marta, Borochowitz, Zvi U., Korn, David, Lerenthal, Yaniv, Somech, Raz

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 583 KB

english, 2014

23

Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience

Gilbar, Roy, Shalev, Stavit, Spiegel, Ronen, Pras, Elon, Berkenstadt, Michal, Sagi, Michal, Ben-Yehuda, Adi, Mor, Pnina, Perry, Shlomit, Zaccai, Tzipora Falik, Borochowitz, Zvi, Barnoy, Sivia

Journal:

Journal of Genetic Counseling

Year:

2016

Language:

english

File:

PDF, 367 KB

english, 2016

24

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

Tzipora C. Falik-Borenstein, Stuart A. Holmes, Zvi Borochowitz, Abi Levin, A. Rosenmann, Richard A. Spritz

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 790 KB

english, 1995

25

Interstitial deletion (6)q13q15

Gershoni-Baruch, Ruth, Mandel, Hanna, Bar El, Hanna, Bar-Nizan, Noga, Borochowitz, Zvi, Dar, Hanna

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 310 KB

english, 1996

26

Familial congenital micromelic dysplasia with dislocation of radius and distinct face: A new skeletal dysplasia syndrome

Zvi Borochowitz, Mila Barak, Silvia Hershkowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 532 KB

english, 1991

27

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi U. Borochowitz, Marina Okopnik, Carlos Knopf, Margarita Indelman, Arie Drugan, Dov Tiosano, Ruth Gershoni-Baruch, Mordechai Choder, Eli Sprecher

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.52 MB

english, 2008

28

Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review

Moshe Shapira, Zvi Borochowitz, Hanna Bar-El, Hanna Dar, Amos Etzioni, Avraham Lorber

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 508 KB

english, 1994

29

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

30

Reply to Drs. Sauvegrain and Maroteaux

Dr. Zvi Borochowitz, Mila Barak, S. Hershkowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 59 KB

english, 1992

31

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology

Dr. Zvi Borochowitz, Leonard O. Langer Jr., Helen E. Gruber, Ralph Lachman, Mariassa Bat-Miriam Katznelson, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 3.22 MB

english, 1993

32

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Sea

Journal:

Year:

1998

Language:

english

File:

PDF, 302 KB

english, 1998

33

Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature

Shapira, Moshe, Dar, Hanna, Bar-El, Hanna, Bar-Nitzan, Noga, Even, Lea, Borochowitz, Zvi

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 235 KB

english, 1997

34

New multiple congenital anomalies: Mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement

Zvi Borochowitz, Lorenzo Pavone, Galia Mazor, Renata Rizzo, Hanna Dar

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 933 KB

english, 1992

35

Absence of association of inherited thrombophilia with unexplained third-trimester intrauterine fetal death

Ron Gonen, Noa Lavi, Dina Attias, Liliana Schliamser, Zvi Borochowitz, Elias Toubi, Gonen Ohel

Journal:

American Journal of Obstetrics and Gynecology

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

36

Language in boys with fragile X syndrome

LEVY, YONATA, GOTTESMAN, RIKI, BOROCHOWITZ, ZVI, FRYDMAN, MOSHE, SAGI, MICHAL

Journal:

Journal of Child Language

Year:

2006

Language:

english

File:

PDF, 290 KB

english, 2006

37

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update

Reish, Orit, Shohat, Mordechai, Magal, Nurit, Pesso, Rachel, Borochowitz, Zvi U, Adir, Vardit, Karpati, Mazal, Shimshoni, Daphne Chapman

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 83 KB

english, 2009

38

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U. Borochowitz, A. Micheil Innes, Sheila Unger, Jacque

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.17 MB

english, 2009

39

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

Reish, Orit, Borochowitz, Zvi U, Adir, Vardit, Shohat, Mordechai, Karpati, Mazal, Shtorch, Atalia, Orr-Urtreger, Avi, Yaron, Yuval, Shalev, Stavit, Fares, Fuad, Gershoni-Baruch, Ruth, Falik-Zaccai, Tz

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 113 KB

english, 2009

40

Neu-Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations

Israel Shapiro, Dr. Zvi Borochowitz, Shimon Degani, Hanna Dar, Izu Ibschitz, Mordechai Sharf

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 474 KB

english, 1992

41

Coronary Heart Disease among Circassians in Israel Is Not Associated with Mutations in Thrombophilia Genes

TZIPORA C. FALIK-ZACCAI, YAFA HARON, DANNY EILAT, BAKKY HARASH, EKATERINA GOLINKER, OSAMAH HUSSEIN, RIVKA EISIKOVITS, ZVI BOROCHOWITZ and SHAI LINN

Journal:

Year:

2003

Language:

english

File:

PDF, 1.19 MB

english, 2003

42

Case 2: Developmental delay, especially language, in a toddler

Shapira, Moshe, Borochowitz, Zvi U

Journal:

Paediatrics & child health

Year:

2008

Language:

english

File:

PDF, 494 KB

english, 2008

43

Sleep apnea in fragile X syndrome

Emanuel Tirosh, Zvi Borochowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 326 KB

english, 1992

44

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing

Sharony, Reuven, Borochowitz, Zvi, Cohen, Lior, Storch, Atalia, Rosenfeld, Revital, Modai, Shira, Reinstein, Eyal

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

45

Facio-cutaneous-skeletal syndrome: New nosological entity or Costello syndrome?

Dr. Zvi Borochowitz, L. Pavone, G. Mazor, R. Rizzo, H. Dar

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 117 KB

english, 1993

46

Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

William A. Paznekas, Michael L. Cunningham, Timothy D. Howard, Bruce R. Korf, Mark H. Lipson, Art W. Grix, Murray Feingold, Rosalie Goldberg, Zvi Borochowitz, Kirk Aleck, John Mulliken, Mingfei Yin, E

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 598 KB

english, 1998

47

Autosomal-recessive omodysplasia: Prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones

Borochowitz, Zvi, Sabo, Edmund, Misselevitch, Ines, Boss, Jochanan H.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 278 KB

english, 1998

48

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1008 KB

english, 2012

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