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Normand, Elizabeth A.
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1

Biallelic variants in GTF3C5, a regulator of RNA polymerase..:

Iwata-Otsubo, Aiko ; Skraban, Cara M. ; Yoshimura, Atsunori...
Human Genetics.  143 (2024)  3 - p. 437-453 , 2024
Link: https://doi.org/10.1007/..
 
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2

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain.  147 (2023)  4 - p. 1436-1456 , 2023
Link: https://doi.org/10.1093/..
 
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3

SEMA6B variants cause intellectual disability and alter den..:

Cordovado, Amélie ; Schaettin, Martina ; Jeanne, Médéric...
Human Molecular Genetics.  31 (2022)  19 - p. 3325-3340 , 2022
Link: https://doi.org/10.1093/..
 
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4

Pathogenic SPTBN1 variants cause an autosomal dominant neur..:

Cousin, Margot A. ; Creighton, Blake A. ; Breau, Keith A....
Nature Genetics.  53 (2021)  7 - p. 1006-1021 , 2021
Link: https://doi.org/10.1038/..
 
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5

Exome and genome sequencing in reproductive medicine:

Normand, Elizabeth A. ; Alaimo, Joseph T. ; Van den Veyver, Ignatia B.
Fertility and Sterility.  109 (2018)  2 - p. 213-220 , 2018
Link: https://doi.org/10.1016/..
 
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6

Clinical exome sequencing for fetuses with ultrasound abnor..:

Normand, Elizabeth A. ; Braxton, Alicia ; Nassef, Salma...
Genome Medicine.  10 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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7

Genome-wide copy number analysis on DNA from fetal cells is..:

Kølvraa, Steen ; Singh, Ripudaman ; Normand, Elizabeth A....
Prenatal Diagnosis.  36 (2016)  12 - p. 1127-1134 , 2016
Link: https://doi.org/10.1002/..
 
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8

Evidence for feasibility of fetal trophoblastic cell‐based ..:

Breman, Amy M. ; Chow, Jennifer C. ; U'Ren, Lance...
Prenatal Diagnosis.  36 (2016)  11 - p. 1009-1019 , 2016
Link: https://doi.org/10.1002/..
 
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9

Comparison of three whole genome amplification methods for ..:

Normand, Elizabeth ; Qdaisat, Sadeem ; Bi, Weimin...
Prenatal Diagnosis.  36 (2016)  9 - p. 823-830 , 2016
Link: https://doi.org/10.1002/..
 
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10

Temporal and Mosaic Tsc1 Deletion in the Developing Thalamu..:

Normand, Elizabeth A. ; Crandall, Shane R. ; Thorn, Catherine A....
Neuron.  78 (2013)  5 - p. 895-909 , 2013
Link: https://doi.org/10.1016/..
 
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11

A Practical Approach to Genetic Inducible Fate Mapping: A V.. 

JoVE : Biology
Brown, Ashly ; Brown, Stephen ; Ellisor, Debra... , 2009
Link: https://www.jove.com/t/1..
 
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12

Contaminant, coloniser or invader? 1. Understanding host‐ba..:

Normand, Elizabeth
In Practice.  29 (2007)  1 - p. 22-27 , 2007
Link: https://doi.org/10.1136/..
 
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13

Contaminant, coloniser or invader? 2. Maximising diagnostic..:

Normand, Elizabeth
In Practice.  29 (2007)  1 - p. 28-33 , 2007
Link: https://doi.org/10.1136/..
 
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14

Delineating the genotypic and phenotypic spectrum of HECW2-..:

Acharya, Anushree ; Kavus, Haluk ; Dunn, Patrick...
10.1136/jmedgenet-2021-107871.  , 2023
Link: http://hdl.handle.net/10..
 
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15

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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