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Journal of Medical Genetics
|
June 5, 2026
PRS-BC<sub>313</sub> integration for tailored breast cancer prevention in female patients and their healthy relatives
Rosanna H E Krakowsky, Stephan Drukewitz, Alexandra Händel, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
Timothy E Green, Mareike Schimmel, Susanna Schubert, et al.
Biochimica Et Biophysica Acta
|
May 25, 1994
Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo
K U Schallreuter, J M Wood, I Ziegler, et al.
Neuropediatrics
|
August 21, 2024
Precision Medicine in Angelman Syndrome
Lena Manssen, Ilona Krey, Janina Gburek-Augustat, et al.
Molecular Genetics and Metabolism Reports
|
December 13, 2016
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in <i>NEU1</i> gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, et al.
Journal of Neurology
|
January 29, 2005
Dementia in idiopathic Parkinson's syndrome
Gerd A Fuchs, Irene Gemende, Birgit Herting, et al.
Annals of Neurology
|
November 15, 2023
De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, et al.
European Journal of Neurology
|
September 3, 2009
Perspectives on recent advances in the understanding and treatment of Parkinson's disease
A H Schapira, Y Agid, P Barone, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 4, 2019
Genotype-phenotype correlation on 45 individuals with West syndrome
Ilona Krey, Janna Krois-Neudenberger, Julia Hentschel, et al.
Biochemical and Biophysical Research Communications
|
November 30, 1992
Production of catecholamines in the human epidermis
K U Schallreuter, J M Wood, R Lemke, et al.
Page
of 35
Search research articles
Search
Showing results (161-170 of 342) with videos related to
Sort By:
Page
of 35
Journal of Medical Genetics
|
June 5, 2026
PRS-BC<sub>313</sub> integration for tailored breast cancer prevention in female patients and their healthy relatives
Rosanna H E Krakowsky, Stephan Drukewitz, Alexandra Händel, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
Timothy E Green, Mareike Schimmel, Susanna Schubert, et al.
Biochimica Et Biophysica Acta
|
May 25, 1994
Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo
K U Schallreuter, J M Wood, I Ziegler, et al.
Neuropediatrics
|
August 21, 2024
Precision Medicine in Angelman Syndrome
Lena Manssen, Ilona Krey, Janina Gburek-Augustat, et al.
Molecular Genetics and Metabolism Reports
|
December 13, 2016
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in <i>NEU1</i> gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, et al.
Journal of Neurology
|
January 29, 2005
Dementia in idiopathic Parkinson's syndrome
Gerd A Fuchs, Irene Gemende, Birgit Herting, et al.
Annals of Neurology
|
November 15, 2023
De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, et al.
European Journal of Neurology
|
September 3, 2009
Perspectives on recent advances in the understanding and treatment of Parkinson's disease
A H Schapira, Y Agid, P Barone, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 4, 2019
Genotype-phenotype correlation on 45 individuals with West syndrome
Ilona Krey, Janna Krois-Neudenberger, Julia Hentschel, et al.
Biochemical and Biophysical Research Communications
|
November 30, 1992
Production of catecholamines in the human epidermis
K U Schallreuter, J M Wood, R Lemke, et al.
Page
of 35