E-LIB Suche - Ergebnisse für: Comeau, Anne Marie

1

Evidence and recommendation for mucopolysaccharidosis type ..:

Ream, Margie A. ; Lam, Wendy K.K. ; Grosse, Scott D....
Genetics in Medicine. 25 (2023) 2 - p. 100330 , 2023

Link: https://doi.org/10.1016/..

2

Trends in Severe Acute Respiratory Syndrome Coronavirus 2 (..:

Ma, Kevin C ; Hale, Jaime E ; Grad, Yonatan H...
Clinical Infectious Diseases. 75 (2022) 1 - p. e105-e113 , 2022

Link: https://doi.org/10.1093/..

3

Massachusetts' Findings from Statewide Newborn Screening fo..:

Hale, Jaime E. ; Darras, Basil T. ; Swoboda, Kathryn J....
International Journal of Neonatal Screening. 7 (2021) 2 - p. 26 , 2021

Link: https://doi.org/10.3390/..

4

Novel Modification of a Confirmatory SMA Sequencing Assay t..:

Kumar, Binod ; Barton, Samantha ; Kordowska, Jolanta...
International Journal of Neonatal Screening. 7 (2021) 3 - p. 47 , 2021

Link: https://doi.org/10.3390/..

5

Defining a new immune deficiency syndrome: MAN2B2-CDG:

Verheijen, Jan ; Wong, Sunnie Y. ; Rowe, Jared H....
Journal of Allergy and Clinical Immunology. 145 (2020) 3 - p. 1008-1011 , 2020

Link: https://doi.org/10.1016/..

6

Paradigm shifts in newborn screening?:

Comeau, Anne Marie
Genetics in Medicine. 21 (2019) 3 - p. 534-535 , 2019

Link: https://doi.org/10.1038/..

7

Newborn screening for X-linked adrenoleukodystrophy: eviden..:

Kemper, Alex R. ; Brosco, Jeffrey ; Comeau, Anne Marie...
Genetics in Medicine. 19 (2017) 1 - p. 121-126 , 2017

Link: https://doi.org/10.1038/..

8

An Atypical Severe Combined Immunodeficiency (SCID) Case Di..:

Alberdi, Taylor ; Castro-Wagner, Johana B. ; Patel, Bhumika...
Journal of Allergy and Clinical Immunology. 139 (2017) 2 - p. AB18 , 2017

Link: https://doi.org/10.1016/..

9

A framework for assessing outcomes from newborn screening: ..:

Hinton, Cynthia F. ; Homer, Charles J. ; Thompson, Alexis A....
Molecular Genetics and Metabolism. 118 (2016) 4 - p. 221-229 , 2016

Link: https://doi.org/10.1016/..

10

Evaluating Harms in the Assessment of Net Benefit: A Framew..:

Goldenberg, Aaron J. ; Comeau, Anne Marie ; Grosse, Scott D....
Maternal and Child Health Journal. 20 (2016) 3 - p. 693-700 , 2016

Link: https://doi.org/10.1007/..

11

First reported case of Omenn syndrome in a patient with ret..:

Henderson, Lauren A. ; Frugoni, Francesco ; Hopkins, Gregory...
Journal of Allergy and Clinical Immunology. 131 (2013) 4 - p. 1227-1230.e3 , 2013

Link: https://doi.org/10.1016/..

12

Whole-exome sequencing identifies tetratricopeptide repeat ..:

Chen, Rui ; Giliani, Silvia ; Lanzi, Gaetana...
Journal of Allergy and Clinical Immunology. 132 (2013) 3 - p. 656-664.e17 , 2013

Link: https://doi.org/10.1016/..

13

Cellular calibrators to quantitate T-cell receptor excision..:

Punwani, Divya ; Gonzalez-Espinosa, Diana ; Comeau, Anne Marie...
Molecular Genetics and Metabolism. 107 (2012) 3 - p. 586-591 , 2012

Link: https://doi.org/10.1016/..

14

A framework for key considerations regarding point-of-care ..:

Kemper, Alex R. ; Kus, Christopher A. ; Ostrander, Robert J....
Genetics in Medicine. 14 (2012) 12 - p. 951-954 , 2012

Link: https://doi.org/10.1038/..

15

Weighing the Evidence for Newborn Screening for Hemoglobin ..:

Kemper, Alex R. ; Knapp, Alixandra A. ; Metterville, Danielle R....
The Journal of Pediatrics. 158 (2011) 5 - p. 780-783 , 2011

Link: https://doi.org/10.1016/..