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Diagnostics (Basel, Switzerland)
|
August 7, 2021
Brain Tissue Low-Level Mosaicism for <i>MTOR</i> Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, et al.
Experimental and Molecular Pathology
|
September 1, 2010
Polymorphisms of the XRCC3 C722T and the RAD51 G135C genes and the risk of head and neck cancer in a Polish population
Tomasz Sliwinski, Anna Walczak, Karolina Przybylowska, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2018
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs
Robert Smigiel, Gerd Landsberg, Maximilian Schilling, et al.
International Journal of Molecular Sciences
|
May 30, 2020
New Tetrahydroacridine Hybrids with Dichlorobenzoic Acid Moiety Demonstrating Multifunctional Potential for the Treatment of Alzheimer's Disease
Kamila Czarnecka, Małgorzata Girek, Przemysław Wójtowicz, et al.
Clinical Genetics
|
June 26, 2018
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation
Jacek Pilch, Agnieszka A Koppolu, Anna Walczak, et al.
Nature Chemistry
|
February 12, 2020
Coordination cages as permanently porous ionic liquids
Lillian Ma, Cally J E Haynes, Angela B Grommet, et al.
Journal of Human Genetics
|
February 8, 2018
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
Robert Smigiel, Anna Biernacka, Mateusz Biela, et al.
Investigative Ophthalmology & Visual Science
|
June 17, 2026
Pharmacologic Alteration of Meibum Lipid Composition Alleviates Dry Eye Phenotype in Awat2-/- Mice
Made Airanthi K Widjaja-Adhi, Chloe Chung, Maryse Lapierre-Landry, et al.
American Journal of Human Genetics
|
June 14, 2016
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Guy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, et al.
Clinical Genetics
|
September 22, 2018
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines
Krzysztof Szczałuba, Joanna J Chmielewska, Olga Sokolowska, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 65) with videos related to
Sort By:
Page
of 7
Diagnostics (Basel, Switzerland)
|
August 7, 2021
Brain Tissue Low-Level Mosaicism for <i>MTOR</i> Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, et al.
Experimental and Molecular Pathology
|
September 1, 2010
Polymorphisms of the XRCC3 C722T and the RAD51 G135C genes and the risk of head and neck cancer in a Polish population
Tomasz Sliwinski, Anna Walczak, Karolina Przybylowska, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2018
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs
Robert Smigiel, Gerd Landsberg, Maximilian Schilling, et al.
International Journal of Molecular Sciences
|
May 30, 2020
New Tetrahydroacridine Hybrids with Dichlorobenzoic Acid Moiety Demonstrating Multifunctional Potential for the Treatment of Alzheimer's Disease
Kamila Czarnecka, Małgorzata Girek, Przemysław Wójtowicz, et al.
Clinical Genetics
|
June 26, 2018
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation
Jacek Pilch, Agnieszka A Koppolu, Anna Walczak, et al.
Nature Chemistry
|
February 12, 2020
Coordination cages as permanently porous ionic liquids
Lillian Ma, Cally J E Haynes, Angela B Grommet, et al.
Journal of Human Genetics
|
February 8, 2018
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
Robert Smigiel, Anna Biernacka, Mateusz Biela, et al.
Investigative Ophthalmology & Visual Science
|
June 17, 2026
Pharmacologic Alteration of Meibum Lipid Composition Alleviates Dry Eye Phenotype in Awat2-/- Mice
Made Airanthi K Widjaja-Adhi, Chloe Chung, Maryse Lapierre-Landry, et al.
American Journal of Human Genetics
|
June 14, 2016
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Guy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, et al.
Clinical Genetics
|
September 22, 2018
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines
Krzysztof Szczałuba, Joanna J Chmielewska, Olga Sokolowska, et al.
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of 7