S. Edvardson: search on Z-Library

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1

Study of positive-party states in 165Er, 167Er and 169Er with the (3He, α) reaction

G. Lövhöiden, P.O. Tjöm, L.O. Edvardson

Journal:

Nuclear Physics A

Year:

1972

Language:

english

File:

PDF, 759 KB

english, 1972

2

EO transitions from A K = 0+ band in 162Dy

L.O. Edvardson, L. Westerberg, G.Ch. Madueme

Journal:

Nuclear Physics A

Year:

1975

Language:

english

File:

PDF, 263 KB

english, 1975

3

Reorientation precession measurements on 108, 110Pd and the quadrupole moments of their first 2+ states

L. Hasselgren, C. Fahlander, F. Falk, L.O. Edvardson, J.E. Thun, B.S. Ghuman, B. Skaali

Journal:

Nuclear Physics A

Year:

1976

Language:

english

File:

PDF, 1.08 MB

english, 1976

4

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 251 KB

english, 2010

5

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 27 KB

english, 2010

6

Leukoencephalopathy with accumulated succinate is indicative ofSDHAF1related complex II deficiency

Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 231 KB

english, 2012

7

West syndrome caused by ST3Gal-III deficiency

Edvardson, Simon, Baumann, Anna-Maria, Mühlenhoff, Martina, Stephan, Oliver, Kuss, Andreas W., Shaag, Avraham, He, Liqun, Zenvirt, Shamir, Tanzi, Raimo, Gerardy-Schahn, Rita, Elpeleg, Orly

Journal:

Year:

2013

Language:

english

File:

PDF, 246 KB

english, 2013

8

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

Edvardson, Simon, Kose, Shingo, Jalas, Chaim, Fattal-Valevski, Aviva, Watanabe, Ai, Ogawa, Yutaka, Mamada, Hiroshi, Fedick, Anastasia M, Ben-Shachar, Shay, Treff, Nathan R, Shaag, Avraham, Bale, Sherr

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

9

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K., Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori, Pras, Elon, Reznik-Wolf, Haike, La

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 1.56 MB

english, 2016

10

Nemaline body myopathy caused by a novel mutation in troponin T1 ( TNNT1 )

Abdulhaq, Ulla Najwa, Daana, Mohannad, Dor, Talia, Fellig, Yakov, Eylon, Sharon, Schuelke, Markus, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon

Journal:

Year:

2016

Language:

english

File:

PDF, 370 KB

english, 2016

11

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranch

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.21 MB

english, 2018

12

A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency

van Diepen, Laura, Buettner, Falk F. R., Hoffmann, Dirk, Thiesler, Christina T., Halbach, Oliver von Bohlen und, Halbach, Viola von Bohlen und, Jensen, Lars R., Steinemann, Doris, Edvardson, Simon, El

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.93 MB

english, 2018

13

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

S. Edvardson, C. Jalas, A. Shaag, S. Zenvirt, C. Landau, I. Lerer, O. Elpeleg

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 97 KB

english, 2011

14

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

Itai Berger, Eli Hershkovitz, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

15

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

16

Functional consequences and structural interpretation of mutations of human choline acetyltransferase

Xin-Ming Shen, Thomas O. Crawford, Joan Brengman, Gyula Acsadi, Susan Iannaconne, Emin Karaca, Chaouky Khoury, Jean K. Mah, Shimon Edvardson, Zeljko Bajzer, David Rodgers, Andrew G. Engel

Journal:

Year:

2011

Language:

english

File:

PDF, 661 KB

english, 2011

17

An in-beam electron-gamma spectrometer

L. Westerberg, L.O. Edvardson, G.Ch. Madueme, J.E. Thun

Journal:

Nuclear Instruments and Methods

Year:

1975

Language:

english

File:

PDF, 469 KB

english, 1975

18

The 371 keV 2+-2+ transition in 190Os investigated by electron-electron and gamma-electron directional correlations

L. Samuelsson, R. Vukanović, M. Migahed, M. Župančić, L.O. Edvardson, L. Westerberg

Journal:

Nuclear Physics A

Year:

1969

Language:

english

File:

PDF, 1.37 MB

english, 1969

19

Vibrational transitions in 182W

L. Westerberg, L.O. Edvardson, G.Ch. Madueme

Journal:

Nuclear Physics A

Year:

1975

Language:

english

File:

PDF, 362 KB

english, 1975

20

2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

Phyllis Dan, Simon Edvardson, Jacek Bielawski, Hiroko Hama, Ann Saada

Journal:

Lipids in Health and Disease

Year:

2011

Language:

english

File:

PDF, 377 KB

english, 2011

21

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

Ann Saada, Shimon Edvardson, Avraham Shaag, Wendy K. Chung, Reeval Segel, Chaya Miller, Chaim Jalas, Orly Elpeleg

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

22

A case of Tourette syndrome presenting with oral self-injurious behaviour

E. LEKSELL, S. EDVARDSON

Journal:

International Journal of Paediatric Dentistry

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

23

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Simon Edvardson, Yuval Cinnamon, Chaim Jalas, Avraham Shaag, Channa Maayan, Felicia B. Axelrod, Orly Elpeleg

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 952 KB

english, 2012

24

Internal conversion studies of double decay processes in 114In

R. Vukanović, L. Samuelsson, M. Migahed, L. Westerberg, L.O. Edvardson

Journal:

Physics Letters B

Year:

1969

Language:

english

File:

PDF, 186 KB

english, 1969

25

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H. Korman, Ilana Taustein, Ann Saada, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 442 KB

english, 2008

26

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Shimon Edvardson, Muhammad Mahajna, Shamir Zenvirt, Ann Saada, Stavit Shalev, Lars Feuk, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 344 KB

english, 2012

27

Compact and efficient 3D shape description through radial function approximation

Hannes Edvardson, Örjan Smedby

Journal:

Computer Methods and Programs in Biomedicine

Year:

2003

Language:

english

File:

PDF, 333 KB

english, 2003

28

Retinol concentration in maternal and cord serum: its relation to birth weight in healthy mother–infant pairs

Elyahu Gazala, Batia Sarov, Eli Hershkovitz, Shimon Edvardson, David Sklan, Miriam Katz, Michael Friger, Rafael Gorodischer

Journal:

Early Human Development

Year:

2003

Language:

english

File:

PDF, 228 KB

english, 2003

29

NMO06 Treatment of congenital myasthenia with ephedrine: a case report

S. Edvardson, Y. Shapirah

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

30

NMP02 A hereditary disorder of early onset motor neuron disease and epilepsy

T. Dor, S. Edvardson, M. Becker-Cohen, S. Rosenbaum, Y. Nevo

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

31

P339 Prevalence and risk factors for ADD/ADHD among children with Down syndrome

S.E. Edvardson, A.T. Tennebaum

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

32

2FC1.5 Exome sequencing and disease prediction implicate a mutation in KIF1A as a cause of hereditary spastic paraparesis type 30.

S. Edvardson, Y. Erlich, O. Elpeleg, E. Hodges, G. Hannon, T. Dor, A. Shaag

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 36 KB

english, 2011

33

P16.2 Childhood myasthenia in Israel

M. Daana, B. Gargi, T. Dor, S. Edvardson, B. Kay, B. Glick, I. Matoth, M. Becker-Cohen, S. Mitrani-Rosenbaum, Y. Shapira, M. Rabie, Y. Nevo

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 51 KB

english, 2011

34

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 916 KB

english, 2008

35

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Flora Barghuti, Khaled Elian, John Moshe Gomori, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 423 KB

english, 2008

36

l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation

Simon Edvardson, Stanley H. Korman, Amir Livne, Avraham Shaag, Ann Saada, Ruppen Nalbandian, Hyla Allouche-Arnon, J. Moshe Gomori, Rachel Katz-Brull

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 135 KB

english, 2010

37

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.53 MB

english, 2007

38

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

Itai Berger, Talya Dor, Jonatan Halvardson, Simon Edvardson, Avraham Shaag, Lars Feuk, Orly Elpeleg

Journal:

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

39

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

Koene, S., Rodenburg, R. J., Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 232 KB

english, 2012

40

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

Nishri, Daniella, Edvardson, Simon, Lev, Dorit, Leshinsky-Silver, Esther, Ben-Sira, Liat, Henneke, Marco, Lerman-Sagie, Tally, Blumkin, Lubov

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.22 MB

english, 2014

41

P181 – 1833 Atypical infantile onset Alexander disease masquerading as a mitochondrial disorder diagnosed by whole exome sequencing

Nishri, D, Blumkin, L, Edvardson, S

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 68 KB

english, 2013

42

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation

Ta-Shma, A., El-lahham, N., Edvardson, S., Stepensky, P., Nir, A., Perles, Z., Gavri, S., Golender, J., Yaakobi-Simhayoff, N., Shaag, A., Rein, A. J. J. T., Elpeleg, O.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.98 MB

english, 2014

43

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter

Edvardson, S., Porcelli, V., Jalas, C., Soiferman, D., Kellner, Y., Shaag, A., Korman, S. H., Pierri, C. L., Scarcia, P., Fraenkel, N. D., Segel, R., Schechter, A., Frumkin, A., Pines, O., Saada, A.,

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 854 KB

english, 2013

44

West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation

Banne, E., Atawneh, O., Henneke, M., Brockmann, K., Gartner, J., Elpeleg, O., Edvardson, S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 727 KB

english, 2013

45

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

Edvardson, S., Ashikov, A., Jalas, C., Sturiale, L., Shaag, A., Fedick, A., Treff, N. R., Garozzo, D., Gerardy-Schahn, R., Elpeleg, O.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.76 MB

english, 2013

46

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Van Scherpenzeel, M., Timal, S., Rymen, D., Hoischen, A., Wuhrer, M., Hipgrave-Ederveen, A., Grunewald, S., Peanne, R., Saada, A., Edvardson, S., Gronborg, S., Ruijter, G., Kattentidt-Mouravieva, A.,

Journal:

Year:

2014

Language:

english

File:

PDF, 541 KB

english, 2014

47

Attention Deficit Hyperactivity Disorders Symptomatology Among Individuals With Down Syndrome

Edvardson, Simon, Msallam, Nadira, Hertz, Pnina, Malkiel, Sarah, Wexler, Isaiah D., Tenenbaum, Ariel

Journal:

Journal of Policy and Practice in Intellectual Disabilities

Year:

2014

Language:

english

File:

PDF, 164 KB

english, 2014

48

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

49

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 914 KB

english, 2015

50

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy

Edvardson, S., Oz, S., Abulhijaa, F. A., Taher, F. B., Shaag, A., Zenvirt, S., Dascal, N., Elpeleg, O.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 267 KB

english, 2013