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Neurology
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March 22, 2015
Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion
Nina Hirt, Katja Eggermann, Sonja Hyrenbach, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 8, 2019
Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition
Annegret Quade, Anne Thiel, Ingo Kurth, et al.
Clinical Genetics
|
July 19, 2002
Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases
Katja Eggermann, U A Mau, G Bujdosó, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 26, 2020
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
Thomas Eggermann, Johanna Brück, Cordula Knopp, et al.
Neurology India
|
March 10, 2022
Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children
Renu Suthar, Indar K Sharawat, Katja Eggermann, et al.
Journal of Neuromuscular Diseases
|
July 18, 2022
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Astrid Blaschek, Heike Kölbel, Oliver Schwartz, et al.
Prenatal Diagnosis
|
June 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, et al.
Muscle & Nerve
|
March 22, 2016
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
Sabine Rudnik-Schöneborn, Florian Deden, Katja Eggermann, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2013
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations
Gesa Schwanitz, Javad Karim Zad Hagh, Isa Abdi Rad, et al.
Therapeutic Advances in Neurological Disorders
|
August 2, 2021
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
Nadine Egenolf, Caren Meyer Zu Altenschildesche, Luisa Kreß, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 37) with videos related to
Sort By:
Page
of 4
Neurology
|
March 22, 2015
Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion
Nina Hirt, Katja Eggermann, Sonja Hyrenbach, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 8, 2019
Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition
Annegret Quade, Anne Thiel, Ingo Kurth, et al.
Clinical Genetics
|
July 19, 2002
Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases
Katja Eggermann, U A Mau, G Bujdosó, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 26, 2020
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
Thomas Eggermann, Johanna Brück, Cordula Knopp, et al.
Neurology India
|
March 10, 2022
Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children
Renu Suthar, Indar K Sharawat, Katja Eggermann, et al.
Journal of Neuromuscular Diseases
|
July 18, 2022
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Astrid Blaschek, Heike Kölbel, Oliver Schwartz, et al.
Prenatal Diagnosis
|
June 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, et al.
Muscle & Nerve
|
March 22, 2016
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
Sabine Rudnik-Schöneborn, Florian Deden, Katja Eggermann, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2013
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations
Gesa Schwanitz, Javad Karim Zad Hagh, Isa Abdi Rad, et al.
Therapeutic Advances in Neurological Disorders
|
August 2, 2021
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
Nadine Egenolf, Caren Meyer Zu Altenschildesche, Luisa Kreß, et al.
Page
of 4