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Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24

PloS one, 2012-02, Vol.7 (2), p.e32120-e32120

2012

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The violent uncanny: Exploring the material politics of austerity

Political geography, 2023-04, Vol.102, p.102843, Article 102843

Kane, Megan

2023

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Current laboratory testing practices for mismatch repair deficiency and microsatellite instability testing: A survey-based review of current laboratory practices

American journal of clinical pathology, 2024-07

2024

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Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Genetics in medicine, 2017-12, Vol.19 (12), p.1367-1375

2017

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Current Laboratory Testing Practices for Assessment of ERBB2/HER2 in Endometrial Serous Carcinoma and Colorectal Carcinoma

Archives of pathology & laboratory medicine (1976), 2023-10, Vol.147 (10), p.1148-1157

2023

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The Krüppel-like factor 2 and Krüppel-like factor 4 genes interact to maintain endothelial integrity in mouse embryonic vasculogenesis

BMC developmental biology, 2013-11, Vol.13 (1), p.40-40, Article 40

2013

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Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

American journal of human genetics, 2016-02, Vol.98 (2), p.339-346

2016

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Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Journal of medical genetics, 2016-03, Vol.53 (3), p.180-189

2016

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Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Molecular genetics and metabolism, 2015-06, Vol.115 (2-3), p.128-140

2015

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MED23-associated intellectual disability in a non-consanguineous family

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1374-1380

2015

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Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Brain (London, England : 1878), 2016-09, Vol.139 (Pt 9), p.e52-e52

2016

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Glycomics in rare diseases: from diagnosis tomechanism

Translational research : the journal of laboratory and clinical medicine, 2019-04, Vol.206, p.5-17

2019

Volltextzugriff (PDF)

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

Genes & diseases, 2019-03, Vol.6 (1), p.56-67

2019

Volltextzugriff (PDF)

LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1599-1611

2013

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Importance and challenges of integrating BLSS into ECLSS

Acta astronautica, 2024-07, Vol.220, p.185-196

2024

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Abnormal glycosylation in Joubert syndrome type 10

Cilia (London), 2017-03, Vol.6 (1), p.2-2, Article 2

2017

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FROM CAMPUS TO CLASSROOM: Rewriting the Writing Process: Multimodality as Meaningful Instruction

English journal, 2018-11, Vol.108 (2), p.101-104

KANE, MEGAN

2018

Volltextzugriff (PDF)

Carving Chopsticks, Building Home: Wood Artifacts from the Market Street Chinatown in San Jose, California

International journal of historical archaeology, 2015-09, Vol.19 (3), p.664-685

2015

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Fan and Tsai: Intracommunity Variation in Plant-Based Food Consumption at the Market Street Chinatown, San Jose, California

Historical archaeology, 2014-01, Vol.48 (2), p.143-172

2014

Volltextzugriff (PDF)

Communicating the “Write” Values: Developing Methods of Computer-Aided Text Analysis for Instructor Training

Proceedings of the 38th ACM International Conference on Design of Communication, 2020, p.1-8

2020

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G6PD deficiency and pharmacogenetics: safer prescribing with Medical Genetics Summaries (MGS)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S341-S342

2021

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eP526 - G6PD deficiency and pharmacogenetics: safer prescribing with Medical Genetics Summaries (MGS)

Molecular genetics and metabolism, 2021-04, Vol.132, p.S341-S342

2021

Volltextzugriff (PDF)

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Frontiers in medicine, 2017-05, Vol.4, p.62

2017

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Length of Neuromuscular Re-education Therapy and Growth Parameters in Premature Infants

American journal of perinatology, 2022-03, Vol.39 (4), p.429

2022

Volltextzugriff (PDF)

In Silico Approaches to Proficiency Testing

The Journal of molecular diagnostics : JMD, 2023-08, Vol.25 (8), p.533-535

2023

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Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24

The violent uncanny: Exploring the material politics of austerity

Current laboratory testing practices for mismatch repair deficiency and microsatellite instability testing: A survey-based review of current laboratory practices

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Current Laboratory Testing Practices for Assessment of ERBB2/HER2 in Endometrial Serous Carcinoma and Colorectal Carcinoma

The Krüppel-like factor 2 and Krüppel-like factor 4 genes interact to maintain endothelial integrity in mouse embryonic vasculogenesis

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

MED23-associated intellectual disability in a non-consanguineous family

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Glycomics in rare diseases: from diagnosis tomechanism

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

Importance and challenges of integrating BLSS into ECLSS

Abnormal glycosylation in Joubert syndrome type 10

FROM CAMPUS TO CLASSROOM: Rewriting the Writing Process: Multimodality as Meaningful Instruction

Carving Chopsticks, Building Home: Wood Artifacts from the Market Street Chinatown in San Jose, California

Fan and Tsai: Intracommunity Variation in Plant-Based Food Consumption at the Market Street Chinatown, San Jose, California

Communicating the “Write” Values: Developing Methods of Computer-Aided Text Analysis for Instructor Training

G6PD deficiency and pharmacogenetics: safer prescribing with Medical Genetics Summaries (MGS)

eP526 - G6PD deficiency and pharmacogenetics: safer prescribing with Medical Genetics Summaries (MGS)

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Length of Neuromuscular Re-education Therapy and Growth Parameters in Premature Infants

In Silico Approaches to Proficiency Testing

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