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51

Nitride heterostructures: a system for high frequency electronics

Jacek A. Majewski, Stefan Hackenbuchner, Günther Zandler, Peter Vogl

Journal:

Computational Materials Science

Year:

2004

Language:

english

File:

PDF, 386 KB

english, 2004

52

The Sam68 STAR RNA-Binding Protein Regulates mTOR Alternative Splicing during Adipogenesis

Marc-Étienne Huot, Gillian Vogel, Amber Zabarauskas, Chau Tuan-Anh Ngo, Jasmin Coulombe-Huntington, Jacek Majewski, Stéphane Richard

Journal:

Year:

2012

Language:

english

File:

PDF, 1.48 MB

english, 2012

53

Alternative splicing of genes expressed during early embryonic development

Timothée Revil, Daniel Gaffney, Christel Dias, Jacek Majewski, Loydie A. Jerome-Majewska

Journal:

Developmental Biology

Year:

2009

Language:

english

File:

PDF, 66 KB

english, 2009

54

Sexual isolation in bacteria

Journal:

FEMS Microbiology Letters

Year:

2001

Language:

english

File:

PDF, 187 KB

english, 2001

55

Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms

Jacek Majewski, Jurg Ott

Journal:

Year:

2003

Language:

english

File:

PDF, 113 KB

english, 2003

56

Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity

Blanka Stibůrková, Jacek Majewski, Ivan Šebesta, Wenyong Zhang, Jurg Ott, Stanislav Kmoch

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 110 KB

english, 2000

57

The Ising Model in Physics and Statistical Genetics

Jacek Majewski, Hao Li, Jurg Ott

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 357 KB

english, 2001

58

Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jürg Ott, Helge Boman

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 466 KB

english, 2003

59

Age-Related Macular Degeneration—a Genome Scan in Extended Families

Jacek Majewski, Dennis W. Schultz, Richard G. Weleber, Mitchell B. Schain, Albert O. Edwards, Tara C. Matise, Ted S. Acott, Jurg Ott, Michael L. Klein

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 641 KB

english, 2003

60

Dependence of Mutational Asymmetry on Gene-Expression Levels in the Human Genome

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 243 KB

english, 2003

61

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 698 KB

english, 2012

62

Ordering in ternary nitride semiconducting alloys

Łopuszyński, Michał, Majewski, Jacek A.

Journal:

Physical Review B

Year:

2012

Language:

english

File:

PDF, 927 KB

english, 2012

63

FrequentATRXmutations and loss of expression in adult diffuse astrocytic tumors carryingIDH1/IDH2andTP53mutations

Xiao-Yang Liu, Noha Gerges, Andrey Korshunov, Nesrin Sabha, Dong-Anh Khuong-Quang, Adam M. Fontebasso, Adam Fleming, Djihad Hadjadj, Jeremy Schwartzentruber, Jacek Majewski, Zhifeng Dong, Peter Siegel

Journal:

Acta Neuropathologica

Year:

2012

Language:

english

File:

PDF, 668 KB

english, 2012

64

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

Jaeseung C. Kim, Ni-Chung Lee, Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Somayyeh Fahiminiya, Jacek Majewski, David Watkins, David S. Rosenblatt

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 600 KB

english, 2012

65

An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

Alexandre Janer, Hana Antonicka, Emilie Lalonde, Tamiko Nishimura, Florin Sasarman, Garry K. Brown, Ruth M. Brown, Jacek Majewski, Eric A. Shoubridge

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 627 KB

english, 2012

66

An Experimental Method for Measuring Solubilities of Solids in Supercritical Fluids

Kwiatkowski, Jacek, Lisicki, Zygmunt, Majewski, Wieslaw

Year:

1984

Language:

english

File:

PDF, 492 KB

english, 1984

67

Functionalization of carbon nanotubes with –CHn, –NHn fragments, –COOH and –OH groups

Milowska, Karolina Z., Majewski, Jacek A.

Journal:

The Journal of Chemical Physics

Year:

2013

Language:

english

File:

PDF, 4.50 MB

english, 2013

68

Electronic structure of graphene functionalized with boron and nitrogen

Woińska, Magdalena, Milowska, Karolina Z., Majewski, Jacek A.

Journal:

Physica status solidi

Year:

2013

Language:

english

File:

PDF, 583 KB

english, 2013

69

Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

Leary, Scot C., Antonicka, Hana, Sasarman, Florin, Weraarpachai, Woranontee, Cobine, Paul A., Pan, Min, Brown, Garry K., Brown, Ruth, Majewski, Jacek, Ha, Kevin C. H., Rahman, Shamima, Shoubridge, Eri

Journal:

Year:

2013

Language:

english

File:

PDF, 423 KB

english, 2013

70

Elastic properties of functionalized carbon nanotubes

Milowska, Karolina Z., Majewski, Jacek A.

Journal:

Physical Chemistry Chemical Physics

Year:

2013

Language:

english

File:

PDF, 2.12 MB

english, 2013

71

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

Moshous, Despina, Martin, Emmanuel, Carpentier, Wassila, Lim, Annick, Callebaut, Isabelle, Canioni, Danielle, Hauck, Fabian, Majewski, Jacek, Schwartzentruber, Jeremy, Nitschke, Patrick, Sirvent, Nico

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 2.75 MB

english, 2013

72

Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge

Sturm, Dominik, Bender, Sebastian, Jones, David T. W., Lichter, Peter, Grill, Jacques, Becher, Oren, Hawkins, Cynthia, Majewski, Jacek, Jones, Chris, Costello, Joseph F., Iavarone, Antonio, Aldape, Ke

Journal:

Nature Reviews Cancer

Year:

2014

Language:

english

File:

PDF, 1.43 MB

english, 2014

73

Ab initio calculations of third-order elastic constants and related properties for selected semiconductors

Łopuszyński, Michał, Majewski, Jacek A.

Journal:

Physical Review B

Year:

2007

Language:

english

File:

PDF, 163 KB

english, 2007

74

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M

Journal:

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

75

Regulation of MHC class I, class II and ICAM-1 expression by TNFalpha and retinoids in HPV16-harboring keratinocytes

Majewski, Slawomir, Malejczyk, Jacek, Breitburd, Francoise, Orth, Gerard, Jablonska, Stefania

Journal:

Journal of Dermatological Science

Year:

1993

Language:

english

File:

PDF, 170 KB

english, 1993

76

Erratum

Camp, Philip, Biernat, Jacek, Mandelkow, Eckhard, Majewski, Jaroslaw, Chi, Eva Y.

Journal:

Spectrochimica Acta Part B: Atomic Spectroscopy

Year:

1974

File:

PDF, 33 KB

1974

77

Books received

Camp, Philip, Biernat, Jacek, Mandelkow, Eckhard, Majewski, Jaroslaw, Chi, Eva Y.

Journal:

Journal of Medieval History

Year:

1978

Language:

english

File:

PDF, 131 KB

english, 1978

78

Lipid-Membrane Mediated Tau Misfolding and Aggregation

Camp, Philip, Biernat, Jacek, Mandelkow, Eckhard, Majewski, Jaroslaw, Chi, Eva Y.

Journal:

Biophysical Journal

Year:

2010

Language:

english

File:

PDF, 53 KB

english, 2010

79

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density

Fahiminiya, Somayyeh, Majewski, Jacek, Roughley, Peter, Roschger, Paul, Klaushofer, Klaus, Rauch, Frank

Journal:

Year:

2013

Language:

english

File:

PDF, 715 KB

english, 2013

80

Natural cell-mediated cytotoxicity against various target cells in patients with epidermodysplasia verruciformis

Majewski, Slawomir, Malejczyk, Jacek, Jablonska, Stefania, Misiewicz, Joanna, Rudnicka, Lidia, Obalek, Slawomir, Orth, Gerard

Journal:

Journal of the American Academy of Dermatology

Year:

1990

Language:

english

File:

PDF, 978 KB

english, 1990

81

Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation

Rødahl, Eyvind, Knappskog, Per M., Majewski, Jacek, Johansson, Stefan, Telstad, Wenche, Kråkenes, Jostein, Boman, Helge

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 815 KB

english, 2013

82

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Prasad, Chitra, Melançon, Serge B., Rupar, C. Anthony, Prasad, Asuri N., Nunez, Laura Dempsey, Rosenblatt, David S., Majewski, Jacek

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 471 KB

english, 2013

83

Interaction of Tau Protein with Model Lipid Membranes Induces Tau Structural Compaction and Membrane Disruption

Jones, Emmalee M., Dubey, Manish, Camp, Phillip J., Vernon, Briana C., Biernat, Jacek, Mandelkow, Eckhard, Majewski, Jaroslaw, Chi, Eva Y.

Journal:

Year:

2012

Language:

english

File:

PDF, 503 KB

english, 2012

84

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 398 KB

english, 2014

85

Digital image analysis of inflammation markers in colorectal mucosa by using a spatial visualization method

Kaczmarek, Elzbieta, Banasiewicz, Tomasz, Seraszek-Jaros, Agnieszka, Krokowicz, Piotr, Grochowalski, Marcin, Majewski, Przemysław, Zurawski, Jakub, Paszkowski, Jacek, Drews, Michał

Journal:

Pathology - Research and Practice

Year:

2014

Language:

english

File:

PDF, 1.49 MB

english, 2014

86

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

Gos, Monika, Fahiminiya, Somayyeh, Poznański, Jarosław, Klapecki, Jakub, Obersztyn, Ewa, Piotrowicz, Małgorzata, Wierzba, Jolanta, Posmyk, Renata, Bal, Jerzy, Majewski, Jacek

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 229 KB

english, 2014

87

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

Dyment, David A., Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Beaulieu, Chandree L., Bulman, Dennis E., Majewski, Jacek, Woulfe, John, Michaud, Jean, Boycott, Kym M.

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 729 KB

english, 2015

88

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

Schwartzentruber, Jeremy, Buhas, Daniela, Majewski, Jacek, Sasarman, Florin, Papillon-Cavanagh, Simon, Thiffaut, Isabelle, Sheldon, Katherine M., Massicotte, Christine, Patry, Lysanne, Simon, Mariella

Journal:

Year:

2014

Language:

english

File:

PDF, 1.83 MB

english, 2014

89

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

Kracker, Sven, Di Virgilio, Michela, Schwartzentruber, Jeremy, Cuenin, Cyrille, Forveille, Monique, Deau, Marie-Céline, McBride, Kevin M., Majewski, Jacek, Gazumyan, Anna, Seneviratne, Suranjith, Grim

Journal:

Journal of Allergy and Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 3.76 MB

english, 2015

90

HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD Locus in the Context of Complex Disease: Review and Perspective

Schultz, Dennis W., Weleber, Richard G., Lawrence, Gus, Barral, Sandra, Majewski, Jacek, Acott, Ted S., Klein, Michael L.

Journal:

Ophthalmic Genetics

Year:

2005

Language:

english

File:

PDF, 86 KB

english, 2005

91

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

Venkateswaran, Sunita, Myers, Ken A., Smith, Amanda C., Beaulieu, Chandree L., Schwartzentruber, Jeremy A., Majewski, Jacek, Bulman, Dennis, Boycott, Kym M., Dyment, David A.

Journal:

Year:

2014

Language:

english

File:

PDF, 682 KB

english, 2014

92

Epigenetic dysregulation: a novel pathway of oncogenesis in pediatric brain tumors

Fontebasso, Adam M., Gayden, Tenzin, Nikbakht, Hamid, Neirinck, Michael, Papillon-Cavanagh, Simon, Majewski, Jacek, Jabado, Nada

Journal:

Acta Neuropathologica

Year:

2014

Language:

english

File:

PDF, 1.27 MB

english, 2014

93

In vivo and ex vivo evaluation of cosmetic properties of seedcakes

Ratz-Łyko, Anna, Arct, Jacek, Pytkowska, Katarzyna, Majewski, Sławomir

Journal:

Journal of Cosmetic and Laser Therapy

Year:

2015

Language:

english

File:

PDF, 593 KB

english, 2015

94

No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour

Foulkes, William D, Clarke, Blaise A, Hasselblatt, Martin, Majewski, Jacek, Albrecht, Steffen, McCluggage, W Glenn

Journal:

The Journal of Pathology

Year:

2014

Language:

english

File:

PDF, 1.45 MB

english, 2014

95

The effect of enzymatic hydrolysis on the biological properties of Oenothera biennis , Borago officinalis and Nigella sativa seedcake by-products from oil pressing

Ratz-Łyko, Anna, Arct, Jacek, Herman, Anna, Pytkowska, Katarzyna, Majewski, Sławomir

Journal:

International Journal of Food Science & Technology

Year:

2014

Language:

english

File:

PDF, 673 KB

english, 2014

96

Synthesis of Dichloromethylphosphonates

Majewski, Piotr, Koszuk, Jacek F.

Journal:

Phosphorus Sulfur and Silicon and the Related Elements

Year:

2009

Language:

english

File:

PDF, 244 KB

english, 2009

97

Stability and electronic structure of covalently functionalized graphene layers

Milowska, Karolina Z., Majewski, Jacek A.

Journal:

physica status solidi (b)

Year:

2013

Language:

english

File:

PDF, 328 KB

english, 2013

98

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Rauch, Frank, Fahiminiya, Somayyeh, Majewski, Jacek, Carrot-Zhang, Jian, Boudko, Sergei, Glorieux, Francis, Mort, John S., Bächinger, Hans-Peter, Moffatt, Pierre

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 994 KB

english, 2015

99

Imaging results of multi-modal ultrasound computerized tomography system designed for breast diagnosis

Opieliński, Krzysztof J., Pruchnicki, Piotr, Gudra, Tadeusz, Podgórski, Przemysław, Kurcz, Jacek, Kraśnicki, Tomasz, Sąsiadek, Marek, Majewski, Jarosław

Journal:

Computerized Medical Imaging and Graphics

Year:

2015

Language:

english

File:

PDF, 6.48 MB

english, 2015

100

Pressure dependence of elastic constants in wurtzite and zinc-blende nitrides and their influence on the optical pressure coefficients in nitride heterostructures

Łepkowski, Sławomir P., Majewski, Jacek A.

Journal:

MRS Proceedings

Year:

2004

Language:

english

File:

PDF, 108 KB

english, 2004