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Archives of Pathology & Laboratory Medicine
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March 10, 2023
TERT Promoter Mutation c.-124C>T Commonly Occurs in Low-Grade Fibromatosis-like Metaplastic Breast Carcinoma
Gerald Webersinke, Jonathan Burghofer, Theodora Malli, et al.
Familial Cancer
|
October 12, 2018
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature
Florian Obermair, Melanie Rammer, Jonathan Burghofer, et al.
Clinical & Experimental Metastasis
|
November 15, 2017
MicroRNAs and their role for T stage determination and lymph node metastasis in early colon carcinoma
Melanie Rammer, Gerald Webersinke, Sophie Haitchi-Petnehazy, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2014
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay
Theodora Malli, Hans-Christoph Duba, Martin Erdel, et al.
Molecular Cytogenetics
|
January 19, 2018
Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3)
Theodora Malli, Melanie Rammer, Sabrina Haslinger, et al.
Genes, Chromosomes & Cancer
|
September 23, 2015
Functional characterization, localization, and inhibitor sensitivity of the TPR-FGFR1 fusion in 8p11 myeloproliferative syndrome
Theodora Malli, Veronika Buxhofer-Ausch, Melanie Rammer, et al.
European Journal of Endocrinology
|
April 15, 2026
Severe Osteogenesis Imperfecta Due to Homozygous Glycine Substitutions in COL1A1 and COL1A2
Alexandra Blaschitz, Rodrigo Montero-Lopez, Tamer A El-Sobky, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
October 3, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
Rodrigo Montero-Lopez, Mariam R Farman, Florian Högler, et al.
Bone
|
October 28, 2023
The Global ALPL gene variant classification project: Dedicated to deciphering variants
Mariam R Farman, Catherine Rehder, Theodora Malli, et al.
JBMR Plus
|
May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variants
Mariam R Farman, Theodora Malli, Catherine Rehder, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Archives of Pathology & Laboratory Medicine
|
March 10, 2023
TERT Promoter Mutation c.-124C>T Commonly Occurs in Low-Grade Fibromatosis-like Metaplastic Breast Carcinoma
Gerald Webersinke, Jonathan Burghofer, Theodora Malli, et al.
Familial Cancer
|
October 12, 2018
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature
Florian Obermair, Melanie Rammer, Jonathan Burghofer, et al.
Clinical & Experimental Metastasis
|
November 15, 2017
MicroRNAs and their role for T stage determination and lymph node metastasis in early colon carcinoma
Melanie Rammer, Gerald Webersinke, Sophie Haitchi-Petnehazy, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2014
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay
Theodora Malli, Hans-Christoph Duba, Martin Erdel, et al.
Molecular Cytogenetics
|
January 19, 2018
Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3)
Theodora Malli, Melanie Rammer, Sabrina Haslinger, et al.
Genes, Chromosomes & Cancer
|
September 23, 2015
Functional characterization, localization, and inhibitor sensitivity of the TPR-FGFR1 fusion in 8p11 myeloproliferative syndrome
Theodora Malli, Veronika Buxhofer-Ausch, Melanie Rammer, et al.
European Journal of Endocrinology
|
April 15, 2026
Severe Osteogenesis Imperfecta Due to Homozygous Glycine Substitutions in COL1A1 and COL1A2
Alexandra Blaschitz, Rodrigo Montero-Lopez, Tamer A El-Sobky, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
October 3, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
Rodrigo Montero-Lopez, Mariam R Farman, Florian Högler, et al.
Bone
|
October 28, 2023
The Global ALPL gene variant classification project: Dedicated to deciphering variants
Mariam R Farman, Catherine Rehder, Theodora Malli, et al.
JBMR Plus
|
May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variants
Mariam R Farman, Theodora Malli, Catherine Rehder, et al.
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of 1