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American Journal of Medical Genetics. Part A
|
April 20, 2023
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders
Jonathan Lukas Lühmann, Gunnar Schmidt, Bernd Auber, et al.
Klinische Padiatrie
|
February 9, 2022
Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature
Ariana de Oliveira Mekonnen, Nicolaus Schwerk, Katharina Schütz, et al.
Human Pathology
|
April 27, 2024
Immunohistochemical marker profiles for the differentiation of collagenous spherulosis from adenoid cystic carcinoma of the breast
Henriette L Warm, Leonie D Kandt, Nora Schaumann, et al.
Genes & Cancer
|
April 25, 2017
<i>GT198 (PSMC3IP)</i> germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families
Stephanie Schubert, Tim Ripperger, Melanie Rood, et al.
Frontiers in Pediatrics
|
December 8, 2025
Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic <i>PIK3CA</i> variant
Ximena Léon-Lara, Sarina Ravens, Sandra von Hardenberg, et al.
Clinical Neuropathology
|
April 21, 2022
Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the <i>NF2</i>:c.784C>T p.(Arg262*) variant
Elena Basenach, Alisa Förster, Peter Raab, et al.
Cancer Genetics
|
July 15, 2025
Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mapping
B Aldrige Allister, Jonathan L Lühmann, Lena Wendeburg, et al.
Kidney International Reports
|
November 24, 2025
Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and <i>PAX2</i> Loss-of-Function Variants and Implications for Clinical Management
Leonie Greipel, Helge Martens, Lina Werfel, et al.
European Journal of Human Genetics : EJHG
|
February 7, 2019
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
Amelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, et al.
Brain : a Journal of Neurology
|
November 4, 2020
Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency
Sandra von Hardenberg, Manuela F Richter, Sven Hethey, et al.
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Search research articles
Search
Showing results (31-40 of 75) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
April 20, 2023
Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders
Jonathan Lukas Lühmann, Gunnar Schmidt, Bernd Auber, et al.
Klinische Padiatrie
|
February 9, 2022
Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature
Ariana de Oliveira Mekonnen, Nicolaus Schwerk, Katharina Schütz, et al.
Human Pathology
|
April 27, 2024
Immunohistochemical marker profiles for the differentiation of collagenous spherulosis from adenoid cystic carcinoma of the breast
Henriette L Warm, Leonie D Kandt, Nora Schaumann, et al.
Genes & Cancer
|
April 25, 2017
<i>GT198 (PSMC3IP)</i> germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families
Stephanie Schubert, Tim Ripperger, Melanie Rood, et al.
Frontiers in Pediatrics
|
December 8, 2025
Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic <i>PIK3CA</i> variant
Ximena Léon-Lara, Sarina Ravens, Sandra von Hardenberg, et al.
Clinical Neuropathology
|
April 21, 2022
Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the <i>NF2</i>:c.784C>T p.(Arg262*) variant
Elena Basenach, Alisa Förster, Peter Raab, et al.
Cancer Genetics
|
July 15, 2025
Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mapping
B Aldrige Allister, Jonathan L Lühmann, Lena Wendeburg, et al.
Kidney International Reports
|
November 24, 2025
Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and <i>PAX2</i> Loss-of-Function Variants and Implications for Clinical Management
Leonie Greipel, Helge Martens, Lina Werfel, et al.
European Journal of Human Genetics : EJHG
|
February 7, 2019
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
Amelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, et al.
Brain : a Journal of Neurology
|
November 4, 2020
Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency
Sandra von Hardenberg, Manuela F Richter, Sven Hethey, et al.
Page
of 8