Anna-Kaisa Niemi : rechercher sur Z-Library

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1

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

Niemi, Anna-Kaisa, Majamaa, Kari

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 97 KB

english, 2005

2

Red and Swollen Umbilical Region

Kumar, Akash, Niemi, Anna-Kaisa, Thorson, Chad M., Palma, Jonathan P.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 954 KB

english, 2018

3

Improved redox status after liver transplantation in a patient with MMA mut0 subtype; functional evidence for EPI-743 therapy

Anna-Kaisa Niemi, Tereza Moore, Tina Cowan, Viktoria Kheifets, Gregory M. Enns

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

4

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status

Enns, Gregory M., Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K., Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M., Ling, Feng

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 393 KB

english, 2014

5

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex

Anna-Kaisa Niemi, Hope Northrup, Louanne Hudgins, Jonathan A. Bernstein

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 77 KB

english, 2011

6

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

Niemi, Anna-Kaisa, Moilanen, Jukka S, Tanaka, Masashi, Hervonen, Antti, Hurme, Mikko, Lehtimäki, Terho, Arai, Yasumichi, Hirose, Nobuyoshi, Majamaa, Kari

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 94 KB

english, 2004

7

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

Niemi, Anna-Kaisa, Hervonen, Antti, Hurme, Mikko, Karhunen, Pekka, Jylh&#x000E4, , Marja, Majamaa, Kari

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 159 KB

english, 2003

8

Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome?

Anna-Kaisa Niemi, Andrea Kwan, Louanne Hudgins, Athena M. Cherry, Melanie A. Manning

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 243 KB

english, 2012

9

A new LC–MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood

Moore, Tereza, Le, Anthony, Niemi, Anna-Kaisa, Kwan, Tony, Cusmano-Ozog, Krinstina, Enns, Gregory M., Cowan, Tina M.

Journal:

Journal of Chromatography B

Année:

2013

Langue:

english

Fichier:

PDF, 532 KB

english, 2013

10

The responses ofVitreoscillahemoglobin-expressing hybrid aspen (Populus

Sutela, Suvi, Ylioja, Tiina, Jokipii-Lukkari, Soile, Anttila, Anna-Kaisa, Julkunen-Tiitto, Riitta, Niemi, Karoliina, MÃ¶llÃ¤ri, Tiina, Kallio, Pauli T., HÃ¤ggman, Hely

Journal:

Journal of Plant Research

Année:

2013

Langue:

english

Fichier:

PDF, 619 KB

english, 2013

11

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency

Niemi, Anna-Kaisa, Brown, Candida, Moore, Tereza, Enns, Gregory M., Cowan, Tina M.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2014

Langue:

english

Fichier:

PDF, 115 KB

english, 2014

12

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

Myers, Angela, Bernstein, Jonathan A., Brennan, Marie-Luise, Curry, Cynthia, Esplin, Edward D., Fisher, Jamie, Homeyer, Margaret, Manning, Melanie A., Muller, Eric A., Niemi, Anna-Kaisa, Seaver, Lauri

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 122 KB

english, 2014

13

Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia

Wilnai, Yael, Enns, Gregory M., Niemi, Anna-Kaisa, Higgins, John, Vogel, Hannes

Journal:

Ultrastructural Pathology

Année:

2014

Langue:

english

Fichier:

PDF, 675 KB

english, 2014

14

Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience

Kim, Irene K., Niemi, Anna-Kaisa, Krueger, Casey, Bonham, Clark A., Concepcion, Waldo, Cowan, Tina M., Enns, Gregory M., Esquivel, Carlos O.

Journal:

Pediatric Transplantation

Année:

2013

Langue:

english

Fichier:

PDF, 259 KB

english, 2013

15

Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation

Niemi, Anna-Kaisa, Kim, Irene K., Krueger, Casey E., Cowan, Tina M., Baugh, Nancy, Farrell, Rachel, Bonham, Clark A., Concepcion, Waldo, Esquivel, Carlos O., Enns, Gregory M.

Journal:

The Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 324 KB

english, 2015

16

Reply

Niemi, Anna-Kaisa, Enns, Gregory M.

Journal:

The Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 192 KB

english, 2015

17

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

Splinter, Kimberly, Niemi, Anna-Kaisa, Cox, Rachel, Platt, Julia, Shah, Monisha, Enns, Gregory M., Kasahara, Mureo, Bernstein, Jonathan A.

Journal:

Journal of Genetic Counseling

Année:

2016

Langue:

english

Fichier:

PDF, 435 KB

english, 2016

18

Expanding the phenotype of hawkinsinuria: new insights from response toN-acetyl-L-cysteine

Gomez-Ospina, Natalia, Scott, Anna I., Oh, Gia J., Potter, Donald, Goel, Veena V., Destino, Lauren, Baugh, Nancy, Enns, Gregory M., Niemi, Anna-Kaisa, Cowan, Tina M.

Journal:

Journal of Inherited Metabolic Disease

Année:

2016

Langue:

english

Fichier:

PDF, 2.01 MB

english, 2016

19

Pediatric Integrative Medicine

McClafferty, Hilary, Vohra, Sunita, Bailey, Michelle, Brown, Melanie, Esparham, Anna, Gerstbacher, Dana, Golianu, Brenda, Niemi, Anna-Kaisa, Sibinga, Erica, Weydert, Joy

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2017

20

Review of Randomized Controlled Trials of Massage in Preterm Infants

Niemi, Anna-Kaisa

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 210 KB

english, 2017

21

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature

Forman, Thomas E., Niemi, Anna-Kaisa, Prahalad, Priya, Shi, Run Zhang, Nally, Laura M.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 456 KB

english, 2019

22

Analysis of functional variants in mitochondrial DNA of Finnish athletes

Kiiskilä, Jukka, Moilanen, Jukka S., Kytövuori, Laura, Niemi, Anna-Kaisa, Majamaa, Kari

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 538 KB

english, 2019

23

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population

Kaivola, Karri, Salmi, Samuli J., Jansson, Lilja, Launes, Jyrki, Hokkanen, Laura, Niemi, Anna-Kaisa, Majamaa, Kari, Lahti, Jari, Eriksson, Johan G., Strandberg, Timo, Laaksovirta, Hannu, Tienari, Pent

Journal:

Acta Neuropathologica Communications

Année:

2020

Fichier:

PDF, 909 KB

2020