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K G Tan

Showing results (41-50 of 195) with videos related to

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Biorxiv : the Preprint Server for Biology|February 15, 2023
A humanized <i>Caenorhabditis elegans</i> model of Hereditary Spastic Paraplegia-associated variants in kinesin light chain KLC4Selin Gümüşderelioğlu, Lauren Resch, Trisha Brock, et al.
Case Reports in Gastroenterology|April 15, 2011
Urachus fistula: a rare first presentation of diverticulitisC Dickhoff, M M Campo, P J A Ophof, et al.
Cold Spring Harbor Molecular Case Studies|July 22, 2017
The importance of managing the patient and not the gene: expanded phenotype of <i>GLE1</i>-associated arthrogryposisQueenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, et al.
Disease Models & Mechanisms|August 11, 2023
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4Selin Gümüşderelioğlu, Lauren Resch, Trisha Brock, et al.
Orphanet Journal of Rare Diseases|September 4, 2023
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|January 12, 2026
A multicenter descriptive study of neonatal-onset urea cycle disorder patients hospitalized in level IV NICUsWhitney S Thompson, Ellen M Bendel-Stenzel, Isabella Zaniletti, et al.
Journal of Genetic Counseling|June 11, 2021
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Stem Cell Reports|December 20, 2024
Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variantsHuijie Yuan, Conor W Mitchell, Andrew T Ferenbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnosesKelly Schoch, Queenie K-G Tan, Nicholas Stong, et al.
The Journal of Infectious Diseases|August 2, 2013
Heparin-binding motifs and biofilm formation by Candida albicansJulianne V Green, Kris I Orsborn, Minlu Zhang, et al.
Pageof 20

Showing results (41-50 of 195) with videos related to

Sort By:
Pageof 20
Biorxiv : the Preprint Server for Biology|February 15, 2023
A humanized <i>Caenorhabditis elegans</i> model of Hereditary Spastic Paraplegia-associated variants in kinesin light chain KLC4Selin Gümüşderelioğlu, Lauren Resch, Trisha Brock, et al.
Case Reports in Gastroenterology|April 15, 2011
Urachus fistula: a rare first presentation of diverticulitisC Dickhoff, M M Campo, P J A Ophof, et al.
Cold Spring Harbor Molecular Case Studies|July 22, 2017
The importance of managing the patient and not the gene: expanded phenotype of <i>GLE1</i>-associated arthrogryposisQueenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, et al.
Disease Models & Mechanisms|August 11, 2023
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4Selin Gümüşderelioğlu, Lauren Resch, Trisha Brock, et al.
Orphanet Journal of Rare Diseases|September 4, 2023
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|January 12, 2026
A multicenter descriptive study of neonatal-onset urea cycle disorder patients hospitalized in level IV NICUsWhitney S Thompson, Ellen M Bendel-Stenzel, Isabella Zaniletti, et al.
Journal of Genetic Counseling|June 11, 2021
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Stem Cell Reports|December 20, 2024
Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variantsHuijie Yuan, Conor W Mitchell, Andrew T Ferenbach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnosesKelly Schoch, Queenie K-G Tan, Nicholas Stong, et al.
The Journal of Infectious Diseases|August 2, 2013
Heparin-binding motifs and biofilm formation by Candida albicansJulianne V Green, Kris I Orsborn, Minlu Zhang, et al.
Pageof 20