S. Almashanu: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease

Jeffrey Chinsky, Melissa Appel, Shlomo Almashanu, Paul Costeas, Nicholas Ambulos Jr., Rivka Carmi

Journal:

Year:

1998

Language:

english

File:

PDF, 136 KB

english, 1998

2

Fusion of luxA and luxB and its expression in E. coli, S. cerevisiae and D. melanogaster

S. Almashanu, B. Musafia, R. Hadar, M. Suissa, J. Kuhn

Journal:

Year:

1990

Language:

english

File:

PDF, 620 KB

english, 1990

3

Formation of active bacterial luciferase between interspecific subunits in vivo

S. Almashanu, A. Tuby, R. Hadar, R. Einy, J. Kuhn

Journal:

Year:

1995

Language:

english

File:

PDF, 898 KB

english, 1995

4

No significant association between HLA antigens and classic kaposi sarcoma: Molecular analysis of 49 jewish patients

Liora Strichman-Almashanu, Sara Weltfriend, Osnat Gideoni, Rachel Friedman-Birnbaum, Shimon Pollack

Journal:

Journal of Clinical Immunology

Year:

1995

Language:

english

File:

PDF, 476 KB

english, 1995

5

10.1038/9658

Valle, David, Camacho, Jose A., Obie, Cassandra, Biery, Barbara, Goodman, Barbara K., Hu, Chien-An, Almashanu, Shlomo, Steel, Gary, Casey, Robin, Lambert, Marie, Mitchell, Grant A.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 733 KB

english, 1999

6

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

A. Alano, S. Almashanu, J.M. Chinsky, P. Costeas, M.G. Blitzer, E.A. Wulfsberg, T.M. Cowan

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 93 KB

english, 1998

7

GIFtS: annotation landscape analysis with GeneCards

Arye Harel, Aron Inger, Gil Stelzer, Liora Strichman-Almashanu, Irina Dalah, Marilyn Safran, Doron Lancet

Journal:

BMC Bioinformatics

Year:

2009

Language:

english

File:

PDF, 2.04 MB

english, 2009

8

Expoldb:expression linkedpolymorphismdatabase with inbuilt tools for analysis of expression and simple repeats

Vineet K Sharma, Anu Sharma, Naveen Kumar, Mamta Khandelwal, Kiran Kumar Mandapati, Shirley Horn-Saban, Liora Strichman-Almashanu, Doron Lancet, Samir K Brahmachari, Srinivasan Ramachandran

Journal:

Year:

2006

Language:

english

File:

PDF, 681 KB

english, 2006

9

Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

K. Reissner, N. Tayebi, B.K. Stubblefield, V. Koprivica, M. Blitzer, W. Holleran, T. Cowan, S. Almashanu, A. Maddalena, E.M. Karson, E. Sidransky

Journal:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 649 KB

english, 1998

10

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

Matthias R. Baumgartner, M.Fernanda Dantas, Terttu Suormala, Shlomo Almashanu, Cecilia Giunta, Dolores Friebel, Boris Gebhardt, Brian Fowler, Georg F. Hoffmann, E.Regula Baumgartner, David Valle

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 473 KB

english, 2004

11

Functional Consequences of PRODH Missense Mutations

Hans-Ulrich Bender, Shlomo Almashanu, Gary Steel, Chien-An Hu, Wei-Wen Lin, Alecia Willis, Ann Pulver, David Valle

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 10.11 MB

english, 2005

12

Characterization of Two Mutations Associated with Epimerase-Deficiency Galactosemia, by Use of a Yeast Expression System for Human UDP-Galactose-4-Epimerase

B.B. Quimby, A. Alano, S. Almashanu, A.M. DeSandro, T.M. Cowan, J.L. Fridovich-Keil

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 210 KB

english, 1997

13

ABC Proteins || Peroxisomal ABC Transporters

Almashanu, Shlomo

Year:

2003

Language:

english

File:

PDF, 4.29 MB

english, 2003

14

The Impact of Refeeding on Blood Fatty Acids and Amino Acid Profiles in Elderly Patients: A Metabolomic Analysis

Dror, Y., Almashanu, S., Lubart, E., Sela, B.-A., Shimoni, L., Segal, R.

Journal:

Journal of Parenteral and Enteral Nutrition

Year:

2013

Language:

english

File:

PDF, 693 KB

english, 2013

15

Long-Term Outcome of Loss-of-Function Mutations in Thyrotropin Receptor Gene

Tenenbaum-Rakover, Yardena, Almashanu, Shlomo, Hess, Ora, Admoni, Osnat, Hag-Dahood Mahameed, Ahmad, Schwartz, Naama, Allon-Shalev, Stavit, Bercovich, Dani, Refetoff, Samuell

Journal:

Year:

2015

Language:

english

File:

PDF, 331 KB

english, 2015

16

A Genome-Wide Screen for Normally Methylated Human CpG Islands That Can Identify Novel Imprinted Genes

Strichman-Almashanu, L. Z., Lee, R. S., Onyango, P. O., Perlman, E., Flam, F., Frieman, M. B., Feinberg, A. P.

Journal:

Genome Research

Year:

2002

Language:

english

File:

PDF, 790 KB

english, 2002

17

Retroposed Copies of the HMG Genes: A Window to Genome Dynamics

Strichman-Almashanu, L. Z.

Journal:

Genome Research

Year:

2003

Language:

english

File:

PDF, 1.40 MB

english, 2003

18

Neonatal hyperthyrotropinemia is associated with low birth weight: a twin study

Zung, A., Yehieli, A., Almashanu, S.

Journal:

European Journal of Endocrinology

Year:

2013

Language:

english

File:

PDF, 138 KB

english, 2013

19

Interspecific luciferase β subunit hybrids between Vibrio harveyi, Vibrio fischeri and Photobacterium leiognathi

Almashanu, S., Gendler, I., Hadar, R., Kuhn, J.

Journal:

Protein Engineering Design and Selection

Year:

1996

Language:

english

File:

PDF, 640 KB

english, 1996

20

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Rips, Jonathan, Almashanu, Shlomo, Mandel, Hanna, Josephsberg, Sagi, Lerman-Sagie, Tally, Zerem, Ayelet, Podeh, Ben, Anikster, Yair, Shaag, Avraham, Luder, Anthony, Staretz Chacham, Orna, Spiegel, Ron

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 289 KB

english, 2016

21

Characteristics of Delayed Thyroid Stimulating Hormone Elevation in Neonatal Intensive Care Unit Newborns

Zung, Amnon, Yehieli, Arie, Blau, Ayala, Almashanu, Shlomo

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 583 KB

english, 2016

22

Hypothyroxinemia and Risk for Transient Tachypnea of Newborn

Ulanovsky, Irena, Smolkin, Tatiana, Almashanu, Shlomo, Mashiach, Tanya, Makhoul, Imad R.

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 260 KB

english, 2016

23

Newborn screening for severe T and B cell immunodeficiency in Israel: A pilot study

Somech, Raz, Lev, Atar, Simon, Amos J., Korn, David, Garty, Ben Zion, Amariglio, Ninette, Rechavi, Gideon, Almashanu, Shlomo, Zlotogora, Joel, Etzioni, Amos

Journal:

Israel Medical Association Journal

Year:

2013

Language:

english

File:

PDF, 140 KB

english, 2013

24

Risk Factors for the Development of Delayed TSH Elevation in Neonatal Intensive Care Unit (NICU) Newborns

Zung, Amnon, Palmon, Rachel Bier, Golan, Agneta, Troitzky, Mara, Eventov-Friedman, Smadar, Marom, Ronella, Keidar, Rimona, Kats, Neri, Almashanu, Shlomo, Flidel-Rimon, Orna

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2017

Language:

english

File:

PDF, 228 KB

english, 2017

25

Hyperthyroxinemia at birth: a cause of idiopathic neonatal hyperbilirubinemia?

Ulanovsky, Irena, Smolkin, Tatiana, Almashanu, Shlomo, Mashiach, Tatiana, Makhoul, Imad R.

Journal:

World Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 712 KB

english, 2018

26

Newborn Screening for Severe Combined Immunodeficiency in Israel

Rechavi, Erez, Lev, Atar, Saraf-Levy, Talia, Etzioni, Amos, Almashanu, Shlomo, Somech, Raz

Journal:

International Journal of Neonatal Screening

Year:

2017

Language:

english

File:

PDF, 213 KB

english, 2017

27

MHC II deficient infant identified by newborn screening program for SCID

Marcus, Nufar, Stauber, Tali, Lev, Atar, Simon, Amos J., Stein, Jerry, Broides, Arnon, Somekh, Ido, Almashanu, Shlomo, Somech, Raz

Journal:

Immunologic Research

Year:

2018

Language:

english

File:

PDF, 572 KB

english, 2018

28

Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I

Tal, Galit, Dar, Dalit E., Almashanu, Shlomo, Korman, Stanley H., Dumin, Elena

Journal:

Pediatrics in Review

Year:

2019

File:

PDF, 1.06 MB

2019

29

Loss of Imprinting in Disease Progression in Chronic Myelogenous Leukemia

Randhawa, Gurvaneet S., Cui, Hengmi, Barletta, Janet A., Strichman-Almashanu, Liora Z., Talpaz, Moshe, Kantarjian, Hagop, Deisseroth, Albert B., Champlin, Richard C., Feinberg, Andrew P.

Journal:

Year:

1998

File:

PDF, 152 KB

1998

30

The natural history of congenital hypothyroidism with delayed TSH elevation in neonatal intensive care newborns

Zung, Amnon, Radi, Alin, Almashanu, Shlomo

Journal:

Clinical Endocrinology

Year:

2020

File:

PDF, 419 KB

2020

31

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

Almagor, Tal, Rath, Shoshana, Nachtigal, Dan, Sharroni, Zohara, Elias-Assad, Ghadir, Hess, Ora, Havazelet, Gilad, Zehavi, Yoav, Spiegel, Ronen, Bercovich, Dani, Almashanu, Shlomo, Tenenbaum-Rakover, Y

Journal:

European Thyroid Journal

Year:

2020

File:

PDF, 134 KB

2020