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51

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

52

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

53

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

54

CHANGES IN THE SYDNEY LINE DURING THE FIRST YEAR OF LIFE

A. Berger, H. Dar, Z. Borochowitz, S. T. Winter

Journal:

Developmental Medicine & Child Neurology

Year:

1983

Language:

english

File:

PDF, 170 KB

english, 1983

55

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

56

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

57

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

58

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

59

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

60

Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups

Z. Borochowitz, R. Lachman, G.E. Adomian, G. Spear, K. Jones, D.L. Rimoin

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 4.44 MB

english, 1988

61

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

62

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

63

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

64

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

65

Founder mutation for Huntington disease in Caucasus Jews

Melamed, O., Behar, D. M., Bram, C., Magal, N., Pras, E., Reznik-Wolf, H., Borochowitz, Z. U., Davidov, B., Mor-Cohen, R., Baris, H. N.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 567 KB

english, 2015

66

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

67

The Taming of the Shrew: Batterers' Constructions of Their Wives' Narratives

Borochowitz, D. Y.

Journal:

Violence Against Women

Year:

2008

Language:

english

File:

PDF, 83 KB

english, 2008

68

The Case of CheckpointWatch: A Study of Organizational Practices in a Women's Human Rights Organization

Desivilya, H. S., Yassour-Borochowitz, D.

Journal:

Organization Studies

Year:

2008

Language:

english

File:

PDF, 180 KB

english, 2008

69

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

70

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.

Borochowitz, Z, Glick, B, Blazer, S

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 582 KB

english, 1991

71

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Silberstein, M., Weissbrod, O., Otten, L., Tzemach, A., Anisenia, A., Shtark, O., Tuberg, D., Galfrin, E., Gannon, I., Shalata, A., Borochowitz, Z. U., Dechter, R., Thompson, E., Geiger, D.

Journal:

Year:

2013

Language:

english

File:

PDF, 474 KB

english, 2013

72

Bilirubin and protein concentration in cord blood after spontaneous versus induced labor. Correlation to neonatal hyperbilirubinemia.

Granat, M., Borochowitz, Z., Berger, A., Sharf, M.

Journal:

Journal of Perinatal Medicine

Year:

1981

Language:

english

File:

PDF, 1.48 MB

english, 1981

73

Teaching a Qualitative Research Seminar on Sensitive Issues: An Autoethnography

Borochowitz, D. Y.

Journal:

Qualitative Social Work

Year:

2005

Language:

english

File:

PDF, 121 KB

english, 2005

74

Deletion (4)(q33-->qter): A Case Report and Review of the Literature

Borochowitz, Z., Shalev, S. A., Yehudai, I., Bar-El, H., Dar, H., Tirosh, E.

Journal:

Journal of Child Neurology

Year:

1997

Language:

english

File:

PDF, 299 KB

english, 1997

75

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

Harville, H. M., Held, S., Diaz-Font, A., Davis, E. E., Diplas, B. H., Lewis, R. A., Borochowitz, Z. U., Zhou, W., Chaki, M., MacDonald, J., Kayserili, H., Beales, P. L., Katsanis, N., Otto, E., Hilde

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 835 KB

english, 2010

76

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

77

Asymmetric Crying Facies

Shapira, M., Borochowitz, Z. U.

Journal:

Year:

2009

Language:

english

File:

PDF, 706 KB

english, 2009

78

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Silberstein, M., Weissbrod, O., Otten, L., Tzemach, A., Anisenia, A., Shtark, O., Tuberg, D., Galfrin, E., Gannon, I., Shalata, A., Borochowitz, Z. U., Dechter, R., Thompson, E., Geiger, D.

Journal:

Year:

2013

Language:

english

File:

PDF, 35 KB

english, 2013

79

SMPD1 mutations and Parkinson disease

Dagan, E., Adir, V., Schlesinger, I., Borochowitz, Z., Ayoub, M., Mory, A., Nassar, M., Kurolap, A., Aharon-Peretz, J., Gershoni-Baruch, R.

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 166 KB

english, 2015

80

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

81

Does 1,25-Dihydroxyvitamin D Participate in the Regulation of Hormone Release from Endocrine Glands?*

HOCHBERG, Z., BOROCHOWITZ, Z., BENDERLI, A., VARDI, P., OREN, S., GOUGOUX, A., SPIRER, Z., HEYMAN, I., WEISMAN, Y.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1985

Language:

english

File:

PDF, 899 KB

english, 1985

82

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

83

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

84

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

85

Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects

Dodiuk-Gad, R.P., Cohen-Barak, E., Khayat, M., Milo, H., Amariglio-Diskin, L., Danial-Faran, N., Sah, M., Ziv, M., Shani-Adir, A., Amichai, B., Zlotogorski, A., Borochowitz, Z., Rozenman, D., Shalev,

Journal:

British Journal of Dermatology

Year:

2016

Language:

english

File:

PDF, 82 KB

english, 2016

86

Response to ‘Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects’: reply from the authors

Dodiuk-Gad, R.P., Cohen-Barak, E., Khayat, M., Milo, H., Amariglio-Diskin, L., Danial-Faran, N., Sah, M., Ziv, M., Shani-Adir, A., Amichai, B., Zlotogorski, A., Borochowitz, Z., Rozenman, D., Shalev,

Journal:

British Journal of Dermatology

Year:

2016

Language:

english

File:

PDF, 31 KB

english, 2016

87

Engaging diversity in academia: manifold voices of faculty

Desivilya, Helena, Borochowitz, Dalit Yassour, Bouknik, Shalom, Kalovski, Geke, Lavy, Ilana, Ore, Liora

Journal:

Equality Diversity and Inclusion An International Journal

Year:

2017

Language:

english

File:

PDF, 216 KB

english, 2017

88

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

89

Sexual Coercion in Dating Violence Among Students in Israel

Michael, Keren, Goussinsky, Ruhama, Yassour-Borochowitz, Dalit

Journal:

The Journal of Sexual Medicine

Year:

2017

Language:

english

File:

PDF, 220 KB

english, 2017

90

Very Low Maternal Serum Unconjugated Estriol and Prenatal Diagnosis of Steroid Sulfatase Deficiency

David, M., Israel, N., Merksamer, R., Bar-Nizan, N., Borochowitz, Z., Bar-El, H., Yehudai, I., Dar, H.

Journal:

Fetal Diagnosis and Therapy

Year:

1995

Language:

english

File:

PDF, 574 KB

english, 1995

91

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

Borochowitz, Z U

Journal:

Journal of Medical Genetics

Year:

2004

Language:

english

File:

PDF, 507 KB

english, 2004

92

Protection Orders for Battered Women in Israel

Yassour-Borochowitz, Dalit

Journal:

Year:

2016

Language:

english

File:

PDF, 201 KB

english, 2016

93

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

94

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

95

“It's a total embarrassment”: Service work and customer sexual harassment

Yassour-Borochowitz, Dalit

Journal:

Women's Studies International Forum

Year:

2020

File:

PDF, 275 KB

2020