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Lazier, Joanna
33  results:
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1

Burosumab for the treatment of cutaneous-skeletal hypophosp..:

Abebe, Lillian ; Phung, Kim ; Robinson, Marie-Eve...
Bone Reports.  20 (2024)  - p. 101725 , 2024
Link: https://doi.org/10.1016/..
 
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2

Evaluation of the diagnostic accuracy of exome sequencing a..:

Hartley, Taila ; Marshall, Deborah ; Acker, Meryl...
Genetics in Medicine.  26 (2024)  2 - p. 101012 , 2024
Link: https://doi.org/10.1016/..
 
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3

From "ACAN" to "I CAN": Restoring wellness in a boy with se..:

Ochoa, Maria ; Yang, Ashlee ; Kollias, Carrie...
Bone Reports.  18 (2023)  - p. 101663 , 2023
Link: https://doi.org/10.1016/..
 
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4

Role of comprehensive cytogenomic investigation in successf..:

Wang, Yiming ; Lazier, Joanna ; Myles‐Reid, Diane...
Clinical Case Reports.  11 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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5

Expanding the clinical spectrum of autosomal‐recessive rena..:

Vincent, Krista M. ; Alrajhi, Afrah ; Lazier, Joanna...
Molecular Genetics & Genomic Medicine.  10 (2022)  5 - p. , 2022
Link: https://doi.org/10.1002/..
 
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6

Prenatal Genetic Testing in the Era of Next Generation Sequ..:

Almubarak, Asra ; Zhang, Dan ; Kosak, Mackenzie...
Genes.  13 (2022)  11 - p. 2019 , 2022
Link: https://doi.org/10.3390/..
 
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7

Clinical application of fetal genome-wide sequencing during..:

Lazier, Joanna ; Hartley, Taila ; Brock, Jo-Ann...
Journal of Medical Genetics.  59 (2021)  10 - p. 931-937 , 2021
Link: https://doi.org/10.1136/..
 
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8

Delineating the expanding phenotype of HERC2‐related disord..:

Vincent, Krista M. ; Eaton, Alison ; Yassaee, Vahid Reza...
Clinical Genetics.  100 (2021)  5 - p. 637-640 , 2021
Link: https://doi.org/10.1111/..
 
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9

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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10

Prenatal diagnosis of chronic intestinal pseudo‐obstruction..:

Milunsky, Aubrey ; Lazier, Joanna ; Baldwin, Clinton...
Prenatal Diagnosis.  37 (2017)  12 - p. 1254-1256 , 2017
Link: https://doi.org/10.1002/..
 
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11

Maternal uniparental disomy for chromosome 6 in a patient w..:

Lazier, Joanna ; Martin, Nicole ; Stavropoulos, James Dimitrios.
American Journal of Medical Genetics Part A.  170 (2016)  12 - p. 3227-3230 , 2016
Link: https://doi.org/10.1002/..
 
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12

Bilateral congenital lumbar hernias in a patient with centr..:

Lazier, Joanna ; Mah, Jean K. ; Nikolic, Ana...
Neuromuscular Disorders.  26 (2016)  1 - p. 56-59 , 2016
Link: https://doi.org/10.1016/..
 
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13

Outcome of infants with elevated C5OH acylcarnitine: Seven ..:

Lazier, Joanna ; Sosova, Iveta ; Sinasac, David..
Clinical Biochemistry.  47 (2014)  15 - p. 148 , 2014
Link: https://doi.org/10.1016/..
 
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14

A 2q24.3q31.1 microdeletion found in a patient with Filippi..:

Lazier, Joanna ; Chernos, Judy ; Lowry, R. Brian
American Journal of Medical Genetics Part A.  164 (2014)  9 - p. 2385-2387 , 2014
Link: https://doi.org/10.1002/..
 
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15

From "ACAN" to "I CAN": Restoring wellness in a boy with se..:

Ochoa, Maria ; Yang, Ashlee ; Kollias, Carrie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025132/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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