T. Reimschisel

发表

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Comprehensive Assessment of Serious Adverse Events Following Immunization by Health Care Providers

K. Edwards, C. Dekker, N. Halsey, 2013, The Journal of Pediatrics.

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

P. Stankiewicz, P. Szafranski, Ankita Patel, 2012, Human molecular genetics.

Impact of congenital talipes equinovarus etiology on treatment outcomes

A. Connolly, M. Dobbs, T. Reimschisel, 2008, Developmental medicine and child neurology.

A systematic review of the published literature on team-based learning in health professions education

T. Reimschisel, Jennifer Huang, Anna L. Herring, 2017, Medical teacher.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2014, Mitochondrion.

You Too Can Teach Clinical Reasoning!

W. Cutrer, T. Reimschisel, J. Gigante, 2012, Pediatrics.

Global Developmental Delay and Regression

T. Reimschisel, 2012 .

Glossary of Study Designs

Melissa L McPheeters, Nila A Sathe, Mary Lou Lindegren, 2012 .

Highest Ranking Questions by Prioritization Criteria

Melissa L McPheeters, Nila A Sathe, Mary Lou Lindegren, 2012 .

[Table, Overall/Foundational Questions Derived from Report].

Melissa L McPheeters, Nila A Sathe, Mary Lou Lindegren, 2012 .

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.

M. Lindegren, C. Fonnesbeck, N. Sathe, 2013, JIMD reports.

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.

R. Schiffmann, T. Reimschisel, G. Pastores, 2010, The Journal of pediatrics.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

J. Rosenfeld, J. Barber, J. Graham, 2015, American journal of medical genetics. Part A.

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant

Amy K. Robertson, D. Cooper, S. Ferdinandusse, 2018, American journal of medical genetics. Part A.

ETHICAL PERSPECTIVES IN NEUROLOGY

T. Reimschisel, 2008 .

Adjuvant Treatment for Phenylketonuria: Future Research Needs

M. Lindegren, N. Sathe, M. McPheeters, 2012 .

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

P. Fernhoff, A. C. Chinault, S. Cederbaum, 2009, Molecular genetics and metabolism.

Rapid comprehensive amino acid analysis by liquid chromatography/tandem mass spectrometry: comparison to cation exchange with post-column ninhydrin detection.

D. Dietzen, M. Landt, T. Reimschisel, 2008, Rapid communications in mass spectrometry : RCM.

Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis

C. Fonnesbeck, M. McPheeters, S. Krishnaswami, 2013, Journal of Inherited Metabolic Disease.

IS IT ETHICALLY PERMISSIBLE TO TEACH ETHICS WITHOUT A CURRICULUM ? THE BASICS

T. Reimschisel, 2009 .

Phenotypic manifestations of copy number variation in chromosome 16p13.11

P. Stankiewicz, E. Roeder, Ankita Patel, 2011, European Journal of Human Genetics.

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

P. Stankiewicz, S. Cheung, E. Obersztyn, 2011, Genetics in Medicine.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

GABA-transaminase deficiency

P. Pearl, T. Reimschisel, K. Gibson, 2015 .

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2017, Genetics in Medicine.

A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression

Yu-Qiang Ding, E. Sweeney, Zhou-Feng Chen, 2005, European Journal of Human Genetics.

American Academy of Neurology qualifications and guidelines for the physician expert witness

M. Rizzo, M. Williams, G. Mackin, 2006, Neurology.

Adjuvant Treatment for Phenylketonuria: Future Research Needs: Identification of Future Research Needs From Comparative Effectiveness Review No. 56

M. Lindegren, N. Sathe, M. McPheeters, 2012 .

Adjuvant Treatment for Phenylketonuria (PKU)

J. Fisher, C. Fonnesbeck, N. Sathe, 2012 .

Heart Transplantation in Children with Mitochondrial Disease.

M. Hall, T. Reimschisel, C. Thurm, 2019, Jornal de Pediatria.

Adjuvant Treatment for Phenylketonuria (PKU)

Nila A. Sathe, J. Fisher, C. Fonnesbeck, 2012 .

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2014, Mitochondrion.

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.

Nila A. Sathe, M. Lindegren, C. Fonnesbeck, 2013, JIMD reports.

Impact of congenital talipes equinovarus etiology on treatment outcomes

A. Connolly, M. Dobbs, T. Reimschisel, 2008, Developmental medicine and child neurology.