E-LIB Suche - Ergebnisse für: SCHWARTZ, MARIANNE

1

Prevalence and Genetics of Leber Hereditary Optic Neuropath..:

Rosenberg, Thomas ; Nørby, Søren ; Schwartz, Marianne...
Investigative Opthalmology & Visual Science. 57 (2016) 3 - p. 1370 , 2016

Link: https://doi.org/10.1167/..

2

Premature Moustache As Presenting Symptom of Nonclassic Con..:

Massa, Guy ; Gillis, Philippe ; Schwartz, Marianne
Case Reports in Genetics. 2011 (2011) - p. 1-3 , 2011

Link: https://doi.org/10.1155/..

3

Testicular adrenal rest tumours in boys, adolescents and ad..:

Mouritsen, Annette ; Jørgensen, Niels ; Main, Katharina M...
International Journal of Andrology. 33 (2010) 3 - p. 521-527 , 2010

Link: https://doi.org/10.1111/..

4

Limited diagnostic value of enzyme analysis in patients wit..:

Wibrand, Flemming ; Jeppesen, Tina D. ; Frederiksen, Anja L....
Muscle & Nerve. 41 (2009) 5 - p. 607-613 , 2009

Link: https://doi.org/10.1002/..

5

High Prevalence of Impaired Glucose Homeostasis and Myopath..:

Frederiksen, Anja Lisbeth ; Jeppesen, Tina Dysgaard ; Vissing, John...
The Journal of Clinical Endocrinology & Metabolism. 94 (2009) 8 - p. 2872-2879 , 2009

Link: https://doi.org/10.1210/..

6

Mutations in the amiloride-sensitive epithelial sodium chan..:

Azad, Abul Kalam ; Rauh, Robert ; Vermeulen, François...
Human Mutation. 30 (2009) 7 - p. 1093-1103 , 2009

Link: https://doi.org/10.1002/..

7

A novel missense mutation in SUCLG1 associated with mitocho..:

Ostergaard, Elsebet ; Schwartz, Marianne ; Batbayli, Mustafa...
European Journal of Pediatrics. 169 (2009) 2 - p. 201-205 , 2009

Link: https://doi.org/10.1007/..

8

Cerebral autosomal dominant arteriopathy with subcortical i..:

GRANILD-JENSEN, JAKOB ; JENSEN, UFFE BIRK ; SCHWARTZ, MARIANNE.
Developmental Medicine & Child Neurology. 51 (2009) 9 - p. 754-757 , 2009

Link: https://doi.org/10.1111/..

9

High‐resolution Melting Facilitates Mutation Screening of P..:

Duno, Morten ; Quinlivan, Ros ; Vissing, John.
Annals of Human Genetics. 73 (2009) 3 - p. 292-297 , 2009

Link: https://doi.org/10.1111/..

10

Phenotype and clinical course in a family with a new de nov..:

Jeppesen, Tina D. ; Schwartz, Marianne ; Colding-Jørgensen, Eskild...
Neuromuscular Disorders. 18 (2008) 4 - p. 306-309 , 2008

Link: https://doi.org/10.1016/..

11

Multiplex Ligation-Dependent Probe Amplification Technique ..:

Sørensen, Karina Meden ; Andersen, Paal Skytt ; Larsen, Lars Allan...
Analytical Chemistry. 80 (2008) 23 - p. 9363-9368 , 2008

Link: https://doi.org/10.1021/..

12

P3‐237: Experiences from genetic testing in familial Alzhei..:

Lindquist, Suzanne G. ; Schwartz, Marianne ; Batbayli, Mustafa...
Alzheimer's & Dementia. 4 (2008) 4S_Part_18 - p. , 2008

Link: https://doi.org/10.1016/..

13

P3‐280: Alzheimer's disease‐like clinical phenotype in a fa..:

Lindquist, Suzanne G. ; Holm, Ida E. ; Schwartz, Marianne...
Alzheimer's & Dementia. 4 (2008) 4S_Part_18 - p. , 2008

Link: https://doi.org/10.1016/..

14

Atypical early-onset Alzheimer's disease caused by the Iran..:

Lindquist, Suzanne Granhøj ; Nielsen, Jørgen Erik ; Stokholm, Jette...
Journal of the Neurological Sciences. 268 (2008) 1-2 - p. 124-130 , 2008

Link: https://doi.org/10.1016/..

15

A 17q21.31 microduplication, reciprocal to the newly descri..:

Kirchhoff, Maria ; Bisgaard, Anne-Marie ; Duno, Morten..
European Journal of Medical Genetics. 50 (2007) 4 - p. 256-263 , 2007

Link: https://doi.org/10.1016/..