K. Kronquist: search on Z-Library

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1

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Coughlin, Curtis R., Swanson, Michael A., Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg,

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

2

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Coughlin, Curtis R, Swanson, Michael A, Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, A

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

3

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.42 MB

english, 2019

4

Isolation and characterization of a cDNA coding for a novel human 17.3k myelin basic protein (MBP) variant

H.J. Roth, K. Kronquist, P.J. Pretorius, B.F. Crandall, Dr. A.T. Campagnoni

Journal:

Journal of Neuroscience Research

Year:

1986

Language:

english

File:

PDF, 783 KB

english, 1986

5

Evidence for the expression of four myelin basic protein variants in the developing human spinal cord through cDNA cloning

H. J. Roth, K. E. Kronquist, N. Kerlero de Rosbo, B. F. Crandall, Dr. A. T. Campagnoni

Journal:

Journal of Neuroscience Research

Year:

1987

Language:

english

File:

PDF, 700 KB

english, 1987

6

Expression of myelin proteins in the developing human spinal cord: Cloning and sequencing of human proteolipid protein cDNA

K. E. Kronquist, B. F. Crandall, W. B. Macklin, Dr. A. T. Campagnoni

Journal:

Journal of Neuroscience Research

Year:

1987

Language:

english

File:

PDF, 655 KB

english, 1987

7

Enzymatic conversion of proteins to glycoproteins by lipid-linked saccharides: A study of potential exogenous acceptor proteins

Kathryn E. Kronquist, William J. Lennarz

Journal:

Journal of Cellular Biochemistry

Year:

1978

Language:

english

File:

PDF, 869 KB

english, 1978

8

Diffusion profile measurements in the base of a microwave transistor

R.L. Kronquist, J.P. Soula, M.E. Brilman

Journal:

Solid-State Electronics

Year:

1973

Language:

english

File:

PDF, 1.01 MB

english, 1973

9

Radiation hard avalanche photodiodes for CMS ECAL

J. Grahl, I. Kronquist, R. Rusack, A. Singovski, A. Kuznetsov, Y. Musienko, S. Reucroft, J. Swain, K. Deiters, Q. Ingram, D. Renker, T. Sakhelashvili

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2003

Language:

english

File:

PDF, 253 KB

english, 2003

10

Reduced fetal hepatic alpha-fetoprotein levels in Down' S syndrome

Dr. Kathryn E. Kronquist, Eli Dreazen, Sherry L. Keener, Thomas W. Nicholas, Barbara F. Crandall

Journal:

Prenatal Diagnosis

Year:

1990

Language:

english

File:

PDF, 786 KB

english, 1990

11

Determination of a microwave transistor model based on an experimental study of its internal structure

R.L. Kronquist, J.Y. Fourrier, J.P. Pestie, M.E. Brilman

Journal:

Solid-State Electronics

Year:

1975

Language:

english

File:

PDF, 1.07 MB

english, 1975

12

Synthesis and subcellular distribution of heparan sulfate in the rat exocrine pancreas

Kathryn E. Kronquist, Abdel Elmahdy, Robert A. Ronzio

Journal:

Archives of Biochemistry and Biophysics

Year:

1977

Language:

english

File:

PDF, 865 KB

english, 1977

13

Glycoprotein synthesis in the adult rat pancreas: IV. Subcellular distribution of membrane glycoproteins

Robert A. Ronzio, Kathryn E. Kronquist, Douglas S. Lewis, Raymond J. Macdonald, Sharon H. Mohrlok, John J. O'Donnell Jr.

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1978

Language:

english

File:

PDF, 1.27 MB

english, 1978

14

Purification and partial characterization of an integral membrane glycoprotein from zymogen granules of dog pancreas

Dougas S. Lewis, Raymond J. Macdonald, Kathryn E. Kronquist, Robert A. Ronzio

Journal:

Year:

1977

Language:

english

File:

PDF, 488 KB

english, 1977

15

Successful HCV genotyping of previously failed and low viral load specimens using an HCV RNA qualitative assay based on transcription-mediated amplification in conjunction with the line probe assay

Lorraine Comanor, Claudia Elkin, Kimmy Leung, Mel Krajden, Kathryn Kronquist, Keith Nicolas, Evelyn Horansky, Maria deMedina, Promrat Kittichai, Erwin Sablon, Rainer Ziermann, Chris Sherlock

Journal:

Journal of Clinical Virology

Year:

2003

Language:

english

File:

PDF, 265 KB

english, 2003

16

Mechanism of alteration of the functional fraction of lipoprotein lipase in rat heart

Kathryn E. Kronquist, Mary E. Pedersen, Michael C. Schotz

Journal:

Year:

1980

Language:

english

File:

PDF, 288 KB

english, 1980

17

Healing Rates of Wing Punch Wounds in Free-Ranging Little Brown Myotis ( Myotis lucifugus )

Weaver, Kimberly N., Alfano, Sara E., Kronquist, Amanda R., Reeder, DeeAnn M.

Journal:

Acta Chiropterologica

Year:

2009

Language:

english

File:

PDF, 130 KB

english, 2009

18

Subpopulations of Liver Coated Vesicles Resolved by Preparative Agarose Gel Electrophoresis

Nancy L. Kedersha, Diane F. Hill, Kathryn E. Kronquist and Leonard H. Rome

Journal:

The Journal of Cell Biology

Year:

1986

Language:

english

File:

PDF, 4.02 MB

english, 1986

19

Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines

Kronquist, Kathryn E, Sherman, Stephanie L, Spector, Elaine B

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 68 KB

english, 2008

20

SPIE Proceedings [SPIE AeroSense '99 - Orlando, FL (Monday 5 April 1999)] Detection and Remediation Technologies for Mines and Minelike Targets IV - Target detection with local discriminant bases and wavelets

Kronquist, Goran, Storm, Henrik, Dubey, Abinash C., Harvey, James F., Broach, J. Thomas, Dugan, Regina E.

Year:

1999

Language:

english

File:

PDF, 1.27 MB

english, 1999

21

Comment on Late-Onset Nonketotic Hyperglycinemia with a Heterozygous Novel Point Mutation of the GLDC Gene

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine B., Kronquist, Kathryn E., Van Hove, Johan L.

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 624 KB

english, 2017

22

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 1.46 MB

english, 2018

23

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

File:

PDF, 1.42 MB

2019