Search research articles
Contact Us
Filters
Showing results (91-100 of 108) with videos related to
Page
of 11
Sort By:
Hormone Research in Paediatrics
|
October 5, 2020
Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores
Caroline S Clausen, Marie L Ljubicic, Katharina M Main, et al.
Neurology
|
June 26, 2020
Permanent muscle weakness in hypokalemic periodic paralysis
Sonja Holm-Yildiz, Nanna Witting, Julia Dahlqvist, et al.
BMC Medical Genetics
|
May 21, 2005
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
Marie Sogaard, Zeynep Tümer, Helle Hjalgrim, et al.
Cerebellum (London, England)
|
February 13, 2016
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
Kirsten Svenstrup, Troels Tolstrup Nielsen, Frederik Aidt, et al.
Hormone Research in Paediatrics
|
February 3, 2022
Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience
Marie Lind-Holst, Marie Bækvad-Hansen, Agnethe Berglund, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2018
Ocular albinism with infertility and late-onset sensorineural hearing loss
Bjørn K Fabian-Jessing, Else Marie Vestergaard, Astrid S Plomp, et al.
Brain : a Journal of Neurology
|
June 5, 2016
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
John Vissing, Rita Barresi, Nanna Witting, et al.
Neurology
|
April 12, 2015
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Claudio Semplicini, John Vissing, Julia R Dahlqvist, et al.
Cells
|
March 16, 2019
Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle
Andreas M Fritzen, Frank B Thøgersen, Kasper Thybo, et al.
Acta Neurologica Scandinavica
|
January 8, 2022
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival
Peter Roos, Peter Johannsen, Suzanne G Lindquist, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 108) with videos related to
Sort By:
Page
of 11
Hormone Research in Paediatrics
|
October 5, 2020
Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores
Caroline S Clausen, Marie L Ljubicic, Katharina M Main, et al.
Neurology
|
June 26, 2020
Permanent muscle weakness in hypokalemic periodic paralysis
Sonja Holm-Yildiz, Nanna Witting, Julia Dahlqvist, et al.
BMC Medical Genetics
|
May 21, 2005
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
Marie Sogaard, Zeynep Tümer, Helle Hjalgrim, et al.
Cerebellum (London, England)
|
February 13, 2016
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
Kirsten Svenstrup, Troels Tolstrup Nielsen, Frederik Aidt, et al.
Hormone Research in Paediatrics
|
February 3, 2022
Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience
Marie Lind-Holst, Marie Bækvad-Hansen, Agnethe Berglund, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2018
Ocular albinism with infertility and late-onset sensorineural hearing loss
Bjørn K Fabian-Jessing, Else Marie Vestergaard, Astrid S Plomp, et al.
Brain : a Journal of Neurology
|
June 5, 2016
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
John Vissing, Rita Barresi, Nanna Witting, et al.
Neurology
|
April 12, 2015
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Claudio Semplicini, John Vissing, Julia R Dahlqvist, et al.
Cells
|
March 16, 2019
Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle
Andreas M Fritzen, Frank B Thøgersen, Kasper Thybo, et al.
Acta Neurologica Scandinavica
|
January 8, 2022
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival
Peter Roos, Peter Johannsen, Suzanne G Lindquist, et al.
Page
of 11