MEDNE, R. S. : rechercher sur Z-Library

Jennifer J.D. Morrissette, Ayala Laufer-Cahana, Livija Medne, Karen L. Russell, Charles P. Venditti, Rochelle Kline, Elaine H. Zackai, Nancy B. Spinner

Année:

2003

Langue:

english

Fichier:

PDF, 259 KB

english, 2003

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 142 KB

english, 2003

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

Douglas R. Stewart, Alina Huang, Francesca Faravelli, Britt-Marie Anderlid, Livija Medne, Karen Ciprero, Maninder Kaur, Elena Rossi, Romano Tenconi, Magnus Nordenskjöld, Karen W. Gripp, Linda Nicholso

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 319 KB

english, 2004

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage

Jennifer J.D. Morrissette, Livija Medne, Tyrone Bentley, Nancy L. Owens, Elizabeth Geiger, Mary Pipan, Elaine H. Zackai, Tamim Shaikh, Nancy B. Spinner

Journal:

Ralph J. DeBerardinis, Livija Medne, Nancy B. Spinner, Elaine H. Zackai

Année:

2005

Langue:

english

Fichier:

PDF, 123 KB

english, 2005

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

Journal:

Jodi D. Hoffman, Mira Irons, Charles E. Schwartz, Livija Medne, Elaine H. Zackai

Année:

2005

Langue:

english

Fichier:

PDF, 150 KB

english, 2005

A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 234 KB

english, 2007

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

Michelle Nino, Claudia Matos-Miranda, Momoe Maeda, Li Chen, Judith Allanson, Christine Armour, Carol Greene, Majeeda Kamaluddeen, Debra Rita, Livija Medne, Elaine Zackai, Sahar Mansour, Andrea Superti

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 249 KB

english, 2008

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Z

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 2.61 MB

english, 2008

Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases

Smita M. Purandare, Linda Ernst, Livija Medne, Dale Huff, Elaine H. Zackai

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 194 KB

english, 2009

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

Zahid Ahmad, Elaine Zackai, Livija Medne, Abhimanyu Garg

Journal:

Olga L. Gurvich, Therese M. Tuohy, Michael T. Howard, Richard S. Finkel, Livija Medne, Christine B. Anderson, Robert B. Weiss, Steve D. Wilton, Kevin M. Flanigan

Année:

2010

Langue:

english

Fichier:

PDF, 200 KB

english, 2010

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

Journal:

Annals of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 316 KB

english, 2008

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

A. Reghan Foley, Ying Hu, Yaqun Zou, Michele Yang, Līvija Medne, Meganne Leach, Laura K. Conlin, Nancy Spinner, Tamim H. Shaikh, Marni Falk, Ann M. Neumeyer, Laurie Bliss, Brian S. Tseng, Thomas L. Wi

Journal:

Annals of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2011

Bis(1,2-cyclopentylenedithio)- and bis(1,2-cyclohexylenedithio)tetrathiafulvalenes

R. S. Medne, Ya. Ya. Katsens, I. L. Kraupsha, O. Ya. Neiland

Journal:

European Journal of Human Genetics

Année:

1991

Langue:

english

Fichier:

PDF, 253 KB

english, 1991

Paternal origin of the de novo constitutional t(11;22)(q23;q11)

Ohye, Tamae, Inagaki, Hidehito, Kogo, Hiroshi, Tsutsumi, Makiko, Kato, Takema, Tong, Maoqing, Macville, Merryn V E, Medne, Livija, Zackai, Elaine H, Emanuel, Beverly S

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 360 KB

english, 2010

Synthesis and properties of bis(vinylenedithio)- and bis(dimethylvinylenedithio)tetrathiafulvalenes

Ya. N. Kreitsberga, R. S. Medne, A. S. édzhinya, M. V. Petrova, O. Ya. Neiland

Journal:

A. Ya. Medne, N. O. Saldabol

Année:

1986

Langue:

english

Fichier:

PDF, 331 KB

english, 1986

Synthesis and transformations of furan derivatives

Journal:

Année:

1965

Langue:

english

Fichier:

PDF, 175 KB

english, 1965

Synthesis and antimicrobial action of α-(5-nitrofuryl-2)quinoxaline and its derivatives

N. O. Saldabol, L. N. Alekseeva, B. A. Brizga, A. Ya. Zile, L. V. Kruzmetra, K. K. Medne

Journal:

Année:

1968

Langue:

english

Fichier:

PDF, 359 KB

english, 1968

Synthesis and antimicrobial action ofα-[2-(5-nitrofuryl-2) vinyl]-quinoxaline and its derivatives

N. O. Saldabol, L. N. Alekseeva, B. A. Brizga, K. K. Medne, L. V. Kruzmetra, A. Ya. Zile

Journal:

Année:

1969

Langue:

english

Fichier:

PDF, 317 KB

english, 1969

Synthesis and transformations of furan derivatives

N. O. Saldabol, A. É. Treilone, L. N. Alekseeva, B. A. Brizga, K. K. Medne

Journal:

L. S. Geita, K. K. Medne, A. K. Grinvalde

Année:

1967

Langue:

english

Fichier:

PDF, 313 KB

english, 1967

Study of unsaturated 2-acylindan-1, 3-diones

Journal:

Année:

1974

Langue:

english

Fichier:

PDF, 233 KB

english, 1974

Reaction of furan-2,5-dialdehyde with D-cycloserine

A. D. Voitenko, Ya. A. Kastron, K. K. Medne, S. A. Giller

Journal:

N. M. Sukhova, K. K. Medne, M. Yu. Lidak

Année:

1972

Langue:

english

Fichier:

PDF, 232 KB

english, 1972

Synthesis and tuberculostatic activity of some 5-nitrofurylvinyl- and 5-nitrofurylbutadienylquinoline derivatives

Journal:

Année:

1970

Langue:

english

Fichier:

PDF, 121 KB

english, 1970

Synthesis and study of thiocarbamides

V. Ya. Grinshtein, K. K. Medne, O. I. Peterson, A. É. Sausin', É. V. Vanag

Journal:

N. O. Saldabol, A. Ya. Medne, S. A. Hiller

Année:

1972

Langue:

english

Fichier:

PDF, 417 KB

english, 1972

Syntheses of methyl-2-furylketones

Journal:

N. O. Saldabol, A. Ya. Medne, S. A. Hiller

Année:

1967

Langue:

english

Fichier:

PDF, 92 KB

english, 1967

Syntheses of methyl-2-furylketones

Journal:

Russian Chemical Bulletin

Année:

1967

Langue:

english

Fichier:

PDF, 147 KB

english, 1967

Synthesis and crystal structure of bis(oxapropylenedithio)tetrathiafulvalene hexafluorophosphate

R. S. Medne, V. Yu. Khodorkovskii, O. Ya. Neiland, M. Z. Aldoshina, L. M. Gol'denberg, R. N. Lyubovskaya, T. G. Takhirov, O. A. D'yachenko, L. O. Atovmyan

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 234 KB

english, 1989

Ion-radical salt of 2-tert-butyltetrathiatetracene with 7,7,8,8-tetracyanoquinodimethane (2∶1)

O. N. Eremenko, A. D. Livdane, R. S. Medne, O. Ya. Neiland, M. L. Khidekel, E. B. Yagubskii

Journal:

Russian Chemical Bulletin

Année:

1977

Langue:

english

Fichier:

PDF, 154 KB

english, 1977

Possible drug interactions in the treatment of asthma and gastric ulcer

L. Lāce, A. Bule, R. Medne, A.S. Stokmane

Journal:

European Journal of Pharmaceutical Sciences

Année:

2007

Langue:

english

Fichier:

PDF, 53 KB

english, 2007

Analgesic, antipyretic and nonsteroidal anti-inflammatory drug and antibiotic use in Latvia

R. Medne, A.S. Stokmane, U. Teibe, J. Rotbergs

Journal:

European Journal of Pharmaceutical Sciences

Année:

2007

Langue:

english

Fichier:

PDF, 52 KB

english, 2007

G.P.4.01 Rare congenital presentation of Emery-Dreifuss muscular dystrophy due to a novel de-novo LMNA mutation R249W

L. Medne, A. Glanzman, J. Flickinger, T. Estilow, M. Rozenberg, C. Bönnemann

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 46 KB

english, 2006

MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement

Joachim Schessl, Livija Medne, Ying Hu, Yaqun Zou, Mark J. Brown, Jason T. Huse, Drew A. Torigian, Heinz Jungbluth, Hans-Hilmar Goebel, Carsten G. Bönnemann

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2007

G.P.13.04 In-frame deletion of the entire dystrophin rod domain prevents compensation by utrophin and causes an unusually severe muscular dystrophy

J. Schessl, M.L. Yang, P.T. Heydemann, R.L. Sufit, L. Medne, A. Attia, R.S. Finkel, C.G. Bönnemann

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 39 KB

english, 2009

P1.11 Large genomic deletions as a novel type of mutation in Ullrich CMD

A.R. Foley, Y. Hu, Y. Zou, M. Yang, L. Medne, M. Leach, L. Conlin, N. Spinner, T. Shaikh, A.M. Neumeyer, L. Bliss, T. Winder, C.G. Bönnemann

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 48 KB

english, 2010

P2.13 Further characterization of the clinical and mutational spectrum of alpha-dystroglycanopathy caused by mutations in the LARGE gene

K.G. Meilleur, L. Medne, Y. Hu, K. Perkins, N. Powell-Hamilton, R. Finkel, M. Scavina, C. Bonnemann

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 59 KB

english, 2011

P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness

K.Z. Perkins, K. Meilleur, L. Medne, M. Devoto, G. Tennekoon, S. Yum, M. Yang, R. Finkel, J. Johnson, J.R. Gibbs, T. Ferguson, Y. Zou, B. Traynor, C. Bonnemann

Journal:

The Journal of Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 58 KB

english, 2011

Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia

Carol L Clericuzio, Emily Chen, Dawn Elizabeth McNeil, Timothy O'Connor, Elaine H Zackai, Livija Medne, Gail Tomlinson, Michael DeBaun

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 88 KB

english, 2003

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D.C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Do

Journal:

The American Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2007

D.P.22 Muscle ultrasound as a consistent imaging marker for RYR1 related myopathies

Dastgir, J., Bharucha-Goebel, D., Medne, L., Donkervoort, S., Meilleur, K., Bonnemann, C.G.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 46 KB

english, 2012

D.P.3 Ethical, social, legal implications of clinical and research genetic testing in the neuromuscular setting: A case study approach

Donkervoort, S., Medne, L., Schindler, A., Pappa, M.B., Bonnemann, C.G.

Journal:

Mirzaa, Ghayda M., Paciorkowski, Alex R., Marsh, Eric D., Berry-Kravis, Elizabeth M., Medne, Livija, Grix, Art, Wirrell, Elaine C., Powell, Berkley R., Nickels, Katherine C., Burton, Barbara, Paras, A

Année:

2012

Langue:

english

Fichier:

PDF, 49 KB

english, 2012

Hematological analyses of some fish species in the Gulf of Riga

R. Medne, M. Balode

Journal:

Oceanology

Année:

2012

Langue:

english

Fichier:

PDF, 148 KB

english, 2012

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

Journal:

Pediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 742 KB

english, 2013

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Chauveau, C., Bonnemann, C. G., Julien, C., Kho, A. L., Marks, H., Talim, B., Maury, P., Arne-Bes, M. C., Uro-Coste, E., Alexandrovich, A., Vihola, A., Schafer, S., Kaufmann, B., Medne, L., Hubner, N.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2014

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

Vanderver, Adeline, Tonduti, Davide, Kahn, Ilana, Schmidt, Johanna, Medne, Livija, Vento, Jodie, Chapman, Kimberly A., Lanpher, Brendan, Pearl, Phillip, Gropman, Andrea, Lourenco, Charles, Bamforth, J

Journal: