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Teresa M Neuhann

Showing results (1-10 of 21) with videos related to

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Die Ophthalmologie|June 2, 2023
[Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know]Teresa M Neuhann, Lukas Neuhann
Investigative Ophthalmology & Visual Science|November 6, 2010
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutationTeresa M Neuhann, Juliane Artelt, Thomas F Neuhann, et al.
Frontiers in Genetics|August 1, 2022
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature ReviewHanna Lausmann, Martin Zacharias, Teresa M Neuhann, et al.
Neuropediatrics|March 14, 2013
Generalized epilepsy in two patients with 5p duplicationGerhard Kluger, Udo Koehler, Teresa M Neuhann, et al.
Journal of Human Genetics|September 9, 2016
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxaMohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, et al.
Familial Cancer|May 15, 2022
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational studyTeresa M Neuhann, Katharina Haub, Verena Steinke-Lange, et al.
American Journal of Medical Genetics. Part A|May 16, 2015
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype descriptionTeresa M Neuhann, Annette Stegerer, Angelika Riess, et al.
International Journal of Molecular Sciences|November 27, 2024
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal DiseaseClaudia S Priglinger, Maximilian J Gerhardt, Siegfried G Priglinger, et al.
The American Journal of Surgical Pathology|April 20, 2013
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosisTeresa M Neuhann, Veit Mansmann, Sabine Merkelbach-Bruse, et al.
BMC Cancer|November 21, 2012
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancerKarin Kast, Teresa M Neuhann, Heike Görgens, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Die Ophthalmologie|June 2, 2023
[Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know]Teresa M Neuhann, Lukas Neuhann
Investigative Ophthalmology & Visual Science|November 6, 2010
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutationTeresa M Neuhann, Juliane Artelt, Thomas F Neuhann, et al.
Frontiers in Genetics|August 1, 2022
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature ReviewHanna Lausmann, Martin Zacharias, Teresa M Neuhann, et al.
Neuropediatrics|March 14, 2013
Generalized epilepsy in two patients with 5p duplicationGerhard Kluger, Udo Koehler, Teresa M Neuhann, et al.
Journal of Human Genetics|September 9, 2016
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxaMohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, et al.
Familial Cancer|May 15, 2022
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational studyTeresa M Neuhann, Katharina Haub, Verena Steinke-Lange, et al.
American Journal of Medical Genetics. Part A|May 16, 2015
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype descriptionTeresa M Neuhann, Annette Stegerer, Angelika Riess, et al.
International Journal of Molecular Sciences|November 27, 2024
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal DiseaseClaudia S Priglinger, Maximilian J Gerhardt, Siegfried G Priglinger, et al.
The American Journal of Surgical Pathology|April 20, 2013
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosisTeresa M Neuhann, Veit Mansmann, Sabine Merkelbach-Bruse, et al.
BMC Cancer|November 21, 2012
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancerKarin Kast, Teresa M Neuhann, Heike Görgens, et al.
Pageof 3