Mandel, Hanna: search on Z-Library

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1

Population screening in a Druze community: the challenge and the reward

Falik-Zaccai, Tzipora C, Kfir, Nechama, Frenkel, Pnina, Cohen, Cindy, Tanus, Mary, Mandel, Hanna, Shihab, Shihab, Morkos, Siman, Aaref, Salameh, Summar, Marshall L, Khayat, Morad

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 492 KB

english, 2008

2

Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision

Häberle, Johannes, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Karall, Daniela, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Pintos‐Morell, Guillem, Santer, René, Skouma, Anastasia, S

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 2.22 MB

english, 2019

3

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Zhang, Shen-Ying, Clark, Nathaniel E., Freije, Catherine A., Pauwels, Elodie, Taggart, Allison J., Okada, Satoshi, Mandel, Hanna, Garcia, Paula, Ciancanelli, Michael J., Biran, Anat, Lafaille, Fabien

Journal:

Year:

2018

Language:

english

File:

PDF, 5.86 MB

english, 2018

4

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

Zehavi, Yoav, Mandel, Hanna, Zehavi, Arie, Rashid, Muhammad Abu, Straussberg, Rachel, Jabur, Banan, Shaag, Avraham, Elpeleg, Orly, Spiegel, Ronen

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017

5

Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease

Bar-Yoseph, Ronen, Mandel, Hanna, Mainzer, Gur, Gur, Michal, Tal, Galit, Shalloufeh, George, Bentur, Lea

Journal:

Pediatric Pulmonology

Year:

2018

Language:

english

File:

PDF, 242 KB

english, 2018

6

C7 complement deficiency in an Israeli Arab village

Doron Behar, Menachem Schlesinger, David Halle, Haim Ben-Ami, Yehouda Edoute, Eduardo Shahar, Imad Kasis, Shihab Shihab, Deborah Elstein, Ari Zimran, Hanna Mandel

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 110 KB

english, 2002

7

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

Shaag, Avraham, Saada, Ann, Berger, Itai, Mandel, Hanna, Joseph, Adina, Feigenbaum, Annette, Elpeleg, Orly N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 371 KB

english, 1999

8

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

9

Plasmalogen Phospholipids Are Involved in HDL-Mediated Cholesterol Efflux: Insights from Investigations with Plasmalogen-Deficient Cells

Hanna Mandel, Rakefet Sharf, Moshe Berant, Ronald J.A. Wanders, Peter Vreken, Michael Aviram

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 89 KB

english, 1998

10

Towards rapid parameter estimation on gravitational waves from compact binaries using interpolated waveforms

Smith, R. J. E., Cannon, K., Hanna, C., Keppel, D., Mandel, I.

Journal:

Physical Review D

Year:

2013

Language:

english

File:

PDF, 1.82 MB

english, 2013

11

THE ROLE OF GENETICS IN HYPERANDROGENIC PCOS: WHAT'S THE BIG, HAIRY DEAL?

Radley, Emma, Raptis, Nepheli I., Mandell, Hanna, Oso, Christy, Grimm, Lauren, Anderson, Jessi, Pavlovic, Zoran J., Beltsos, Angeline, Jeelani, Roohi

Journal:

Fertility and Sterility

Year:

2020

File:

PDF, 112 KB

2020

12

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

13

MICROFLUIDIC SPERM SORTING VS. DENSITY GRADIENT: A PRELIMINARY ANALYSIS EXAMINING EMBRYO GRADE AND PREGNANCY OUTCOMES IN IVF-ICSI CYCLES USING VARYING SPERM SELECTION METHODS

Pavlovic, Zoran J., Sax, Megan R., Tawa, Alex, Grimm, Lauren, Raptis, Nepheli I., Anderson, Jessi, Radley, Emma, Mandell, Hanna, Oso, Christy, Beltsos, Angeline, Jeelani, Roohi

Journal:

Fertility and Sterility

Year:

2020

File:

PDF, 141 KB

2020

14

Thiamine-Dependent Beriberi in the Thiamine-Responsive Anemia Syndrome

Mandel, Hanna, Berant, Moshe, Hazani, Annie, Naveh, Yehezkel

Journal:

Boston Medical and Surgical Journal

Year:

1984

File:

PDF, 468 KB

1984

15

Is the zona pellucida thickness of human embryos influenced by women's age and hormonal levels?

Hanna Balakier, Agata Sojecki, Gelareh Motamedi, Siamak Bashar, Rodica Mandel, Clifford Librach

Journal:

Fertility and Sterility

Year:

2012

Language:

english

File:

PDF, 165 KB

english, 2012

16

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Borhane Annabi, Brian C. Mansfield, Hisayuki Hiraiwa, Ke-Jian Lei, Tsuneyuki Ubagai, Mihael H. Polymeropoulos, Shimon W. Moses, Ruti Parvari, Eli Hershkovitz, Hanna Mandel, Moshe Fryman, Janice Yang C

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.07 MB

english, 1998

17

Enhanced Reprogramming and Cardiac Differentiation of Human Keratinocytes Derived from Plucked Hair Follicles, Using a Single Excisable Lentivirus

Novak, Atara, Shtrichman, Ronit, Germanguz, Igal, Segev, Hanna, Zeevi-Levin, Naama, Fishman, Bettina, Mandel, Ya-el, Barad, Lili, Domev, Hagit, Kotton, Darrell, Mostoslavsky, Gustavo, Binah, Ofer, Its

Journal:

Cellular Reprogramming (Formerly "Cloning and Stem Cells")

Year:

2010

Language:

english

File:

PDF, 783 KB

english, 2010

18

Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Mory, Adi, Dagan, Efrat, Shahor, Ishai, Mandel, Hanna, Illi, Barbara, Zolotushko, Jenny, Kurolap, Alina, Chechik, Emilia, Valente, Enza M., Amselem, Serge, Gershoni-Baruch, Ruth

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

19

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

Sarig, Ofer, Goldsher, Dorit, Nousbeck, Janna, Fuchs-Telem, Dana, Cohen-Katsenelson, Ksenya, Iancu, Theodore C., Manov, Irena, Saada, Ann, Sprecher, Eli, Mandel, Hanna

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.74 MB

english, 2013

20

Wound healing complications in brain tumor patients on Bevacizumab

Ladha, Harshad, Pawar, Tushar, Gilbert, Mark R., Mandel, Jacob, O-Brien, Barbara, Conrad, Charles, Fields, Margaret, Hanna, Teresa, Loch, Carolyn, Armstrong, Terri S.

Journal:

Journal of Neuro-Oncology

Year:

2015

Language:

english

File:

PDF, 543 KB

english, 2015

21

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

Hershkovitz, Tova, Kurolap, Alina, Gonzaga-Jauregui, Claudia, Paperna, Tamar, Mory, Adi, Wolf, Sarah E., Overton, John D., Shuldiner, Alan R., Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit

Journal:

Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.13 MB

english, 2019

22

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 99 KB

english, 2009

23

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

Spiegel, Ronen, Mandel, Hanna, Saada, Ann, Lerer, Issy, Burger, Ayala, Shaag, Avraham, Shalev, Stavit A, Jabaly-Habib, Haneen, Goldsher, Dorit, Gomori, John M, Lossos, Alex, Elpeleg, Orly, Meiner, Var

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.28 MB

english, 2014

24

Corticosteroid Binding Globulin, Total Serum Cortisol, and Stress in Extremely Low-Birth-Weight Infants

Hanna, Cheryl, Jett, Patricia, Laird, Mary, Mandel, Scott, LaFranchi, Stephen, Reynolds, John

Journal:

American Journal of Perinatology

Year:

1997

Language:

english

File:

PDF, 980 KB

english, 1997

25

Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

Gootjes, Jeannette, Elpeleg, Orly, Eyskens, François, Mandel, Hanna, Mitanchez, Delphine, Shimozawa, Noboyuki, Suzuki, Yasuyuki, Waterham, Hans R, Wanders, Ronald J A

Journal:

Pediatric Research

Year:

2004

Language:

english

File:

PDF, 150 KB

english, 2004

26

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

Mandel, Hanna, Saita, Shotaro, Edvardson, Simon, Jalas, Chaim, Shaag, Avraham, Goldsher, Dorit, Vlodavsky, Euvgeni, Langer, Thomas, Elpeleg, Orly

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.91 MB

english, 2016

27

COG6âCDG : Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development

Mandel, Hanna, Kfir, Nehama Cohen, Fedida, Ayalla, Biton, Efrat Shuster, Odeh, Marwan, Kalfon, Limor, Harouch, Shani Ben, Fleischer, Vered Sheffer, Hoffman, Yoav, Goldberg, Yael, Dinwiddie, April, Dum

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 1.30 MB

2020

28

TIPPING THE SCALE: BODY MASS INDEX AS A PREDICTOR OF EMBRYONIC MITOCHONDRIAL DNA CONTENT

Grimm, Lauren, Pavlovic, Zoran J., Raptis, Nepheli, Radley, Emma, Mandell, Hanna, Oso, Christy, Anderson, Jessi, Zimmerman, Shawn, Beltsos, Angeline, Cooper, Amber R., Jeelani, Roohi

Journal:

Fertility and Sterility

Year:

2020

File:

PDF, 56 KB

2020

29

Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza

Hanna Mandel, Deeksha Bali, Priya S. Kishnani, Gad Bar-Joseph, Avraham Lorber, Asaad Khoury, Dalia Natan, Dan J. Eldad, Marsha Zeigler, Dan Bercovich, Horachio Plotkin, Eli Herskovitz

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

30

Thyroxine-binding globulin deficiencydetected by newborn screening

Scott Mandel, Cheryl Hanna, Bruce Boston, David Sesser, Stephen LaFranchl

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 325 KB

english, 1993

31

Diminished thyroid-stimulating hormone secretion associated with neonatal thyrotoxicosis

Scott H. Mandel, Cheryl E. Hanna, Stephen H. LaFranchi

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 351 KB

english, 1986

32

Clinical Zinc Deficiency During Zinc-Supplemented Formula

Naveh, Yehezkel, Mandel, Hanna, Berant, Moshe

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

1989

File:

PDF, 299 KB

1989

33

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Nicolino, Marc, Byrne, Barry, Wraith, J Edmund, Leslie, Nancy, Mandel, Hanna, Freyer, David R, Arnold, Georgianne L, Pivnick, Eniko K, Ottinger, C J, Robinson, Peter H, Loo, John-Charles A, Smitka, Ma

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 1.01 MB

english, 2009

34

Safe and Efficacious Allogeneic Bone Marrow Transplantation for Nonmalignant Disorders Using Partial T Cell Depletion and No Posttransplantation Graft-Versus-Host-Disease Prophylaxis

Ronit Elhasid, Myriam Ben Arush, Irena Zaidman, Ronit Leiba, Ayelet Ben Barak, Sergey Postovsky, Nuhad Haddad, Tami Katz, Shimon Pollack, Ivanka Sami, Osnat Gidoni, Dina Rubin, Hanna Mandel, Dina Atti

Journal:

Biology of Blood and Marrow Transplantation

Year:

2007

Language:

english

File:

PDF, 243 KB

english, 2007

35

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

Priya S. Kishnani, Paula C. Goldenberg, Stephanie L. DeArmey, James Heller, Danny Benjamin, Sarah Young, Deeksha Bali, Sue Ann Smith, Jennifer S. Li, Hanna Mandel, Dwight Koeberl, Amy Rosenberg, Y-T C

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 435 KB

english, 2010

36

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Rav

Journal:

EMBO Molecular Medicine

Year:

2017

Language:

english

File:

PDF, 182 KB

english, 2017

37

PARAMETER ESTIMATION ON GRAVITATIONAL WAVES FROM NEUTRON-STAR BINARIES WITH SPINNING COMPONENTS

Farr, Ben, Berry, Christopher P. L., Farr, Will M., Haster, Carl-Johan, Middleton, Hannah, Cannon, Kipp, Graff, Philip B., Hanna, Chad, Mandel, Ilya, Pankow, Chris, Price, Larry R., Sidery, Trevor, Si

Journal:

The Astrophysical Journal

Year:

2016

File:

PDF, 17.66 MB

2016

38

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping

Adel Shalata, Hanna Mandel, Jochen Reiss, Raymonde Szargel, Annick Cohen-Akenine, Claude Dorche, Marie-Therese Zabot, Albert Van Gennip, Nico Abeling, Moshe Berant, Nadine Cohen

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 116 KB

english, 1998

39

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm

Gal, Moran, Magen, Daniella, Zahran, Younan, Ravid, Sarit, Eran, Ayelet, Khayat, Morad, Gafni, Chen, Levanon, Erez Y., Mandel, Hanna

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.04 MB

english, 2016

40

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

Bouwkamp, Christian G., Afawi, Zaid, Fattal-Valevski, Aviva, Krabbendam, Inge E., Rivetti, Stefano, Masalha, Rafik, Quadri, Marialuisa, Breedveld, Guido J., Mandel, Hanna, Tailakh, Muhammad Abu, Bever

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 688 KB

english, 2018

41

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Tzipora C. Falik-Zaccai, Morad Khayat, Anthony Luder, Pnina Frenkel, Daniella Magen, Riva Brik, Ruth Gershoni-Baruch, Hanna Mandel

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 357 KB

english, 2010

42

10.1038/ng746

Mandel, Hanna, Szargel, Raymonde, Labay, Valentina, Elpeleg, Orly, Saada, Ann, Shalata, Adel, Anbinder, Yefim, Berkowitz, Drora, Hartman, Corina, Barak, Mila, Eriksson, Staffan, Cohen, Nadine

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 1.68 MB

english, 2001

43

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C

Meiner, Vardiella, Shpitzen, Shoshi, Mandel, Hanna, Klar, Aharon, Ben-Neriah, Ziva, Zlotogora, Joël, Sagi, Michal, Lossos, Alex, Bargal, Ruth, Sury, Vivy, Carmi, Rivka, Leitersdorf, Eran, Zeigler, Mar

Journal:

Genetics in Medicine

Year:

2001

Language:

english

File:

PDF, 78 KB

english, 2001

44

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klau

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.07 MB

english, 2014

45

A Case of H Syndrome Showing Immunophenotye Similarities to Rosai–Dorfman Disease

Avitan-Hersh, Emily, Mandel, Hanna, Indelman, Margarita, Bar-Joseph, Gad, Zlotogorski, Abraham, Bergman, Reuven

Journal:

American Journal of Dermatopathology

Year:

2011

Language:

english

File:

PDF, 732 KB

english, 2011

46

Walker-Warburg syndrome and tectocerebellar dysraphia: a novel association caused by a homozygous DAG1 mutation

Leibovitz, Zvi, Mandel, Hanna, Falik-Zaccai, Tzipora C., Ben Harouch, Shani, Savitzki, David, Krajden-Haratz, Karina, Gindes, Liat, Tamarkin, Mordechai, Lev, Dorit, Dobyns, William B., Lerman-Sagie, T

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 890 KB

english, 2017

47

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

Fedida, Ayalla, Ben Harouch, Shani, Kalfon, Limor, Abunassar, Zahi, Omari, Hussam, Mandel, Hanna, Falik-Zaccai, Tzipora C.

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 1.51 MB

2020

48

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

Adel Shalata, Hanna Mandel, Claude Dorche, Marie-Therese Zabot, Stavit Shalev, Yasir Hugeirat, Drugan Arieh, Zamir Ronit, Jochen Reiss, Yefim Anbinder, Nadine Cohen

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 124 KB

english, 2000

49

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

Tanner, Stephan M., Aminoff, Maria, Wright, Fred A., Liyanarachchi, Sandya, Kuronen, Mervi, Saarinen, Anne, Massika, Orit, Mandel, Hanna, Broch, Harald, de la Chapelle, Albert

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 160 KB

english, 2003

50

10.1038/1706

Reiss, Jochen, Cohen, Nadine, Dorche, Claude, Mandel, Hanna, Mendel, Ralf R., Stallmeyer, Birgit, Zabot, Marie-Therese, Dierks, Thomas

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 211 KB

english, 1998

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