E-LIB Suche - Ergebnisse für: Dineen, Richard

1

eP202: A new pathologic KMT2B variant associated with child..:

Owczarzak, Laura ; Hogan, Kelsey ; Dineen, Richard..
Genetics in Medicine. 24 (2022) 3 - p. S124-S125 , 2022

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

2

Exploring United States genetic counselor and healthcare in..:

Wang, Melissa ; Rosenbaum, Marc ; Dineen, Richard...
Journal of Genetic Counseling. 31 (2022) 4 - p. 976-988 , 2022

Link: https://doi.org/10.1002/..

3

RBCK1-Associated Polyglucosan Body Myopathy Presenting with..:

Aggarwal, Sanket ; Jacobson, Ryan ; Dineen, Richard.
Neurology. 98 (2022) 18_supplement - p. , 2022

Link: https://doi.org/10.1212/..

4

Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD..:

Nguyen, Hoang ; Umapathi, Krishna Kishore ; Dineen, Richard..
Cardiogenetics. 10 (2020) 1 - p. 9193 , 2020

Link: https://doi.org/10.4081/..

5

Interpreters' perceptions of culture bumps in genetic couns..:

Rosenbaum, Marc ; Dineen, Richard ; Schmitz, Karen...
Journal of Genetic Counseling. 29 (2020) 3 - p. 352-364 , 2020

Link: https://doi.org/10.1002/..

6

Respiratory Insufficiency as a Feature of MORC2 Gene-Relate..:

Fenton, Gregory ; Malik, Rabia ; Dineen, Richard
Neurology. 94 (2020) 15_supplement - p. , 2020

Link: https://doi.org/10.1212/..

7

Evaluation and classification of severity for 176 genes on ..:

Arjunan, Aishwarya ; Bellerose, Holly ; Torres, Raul...
Prenatal Diagnosis. 40 (2020) 10 - p. 1246-1257 , 2020

Link: https://doi.org/10.1002/..

8

Implementation of newborn screening for lysosomal disease: ..:

Corkery, Jill T. ; McRae, Anne ; O'Neill, Suzanne M....
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S36-S37 , 2016

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

9

Behavioral abnormalities are common and severe in patients ..:

Lindgren, Valerie ; McRae, Anne ; Dineen, Richard...
Molecular Genetics & Genomic Medicine. 3 (2015) 4 - p. 346-353 , 2015

Link: https://doi.org/10.1002/..

10

Genetics Professionals' Opinions of Whole‐Genome Sequencing..:

Ulm, Elizabeth ; Feero, W. Gregory ; Dineen, Richard..
Journal of Genetic Counseling. 24 (2014) 3 - p. 452-463 , 2014

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

11

Two novel compound heterozygous mutations in OPA3 in two si..:

Lam, Christina ; Gallo, Linda K. ; Dineen, Richard...
Molecular Genetics and Metabolism Reports. 1 (2014) - p. 114-123 , 2014

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

12

Mutations in PPIB (cyclophilin B) delay type I procollagen ..:

Pyott, Shawna M. ; Schwarze, Ulrike ; Christiansen, Helena E....
Human Molecular Genetics. 20 (2011) 8 - p. 1595-1609 , 2011

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

13

Book Review: Syndrome Identification for Speech-Language Pa..:

Guyette, Thomas ; Dineen, Richard
The Cleft Palate-Craniofacial Journal. 39 (2002) 1 - p. 122-122 , 2002

Link: https://doi.org/10.1597/..

14

BOOK REVIEW: Syndrome Identification for Speech-Language Pa..:

Guyette, Thomas ; Dineen, Richard
The Cleft Palate-Craniofacial Journal. 39 (2002) 1 - p. 122-122 , 2002

Link: https://doi.org/10.1597/..

15

De Novo Frameshift Variants in the Neuronal Splicing Factor..:

Mattioli, Francesca ; Hayot, Gaelle ; Drouot, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2020.02.013. , 2020

Link: https://hal.science/hal-..