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McGillivray, George
156  Ergebnisse:
Personensuche X
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1

Outcomes of children diagnosed antenatally with sex chromos..:

Angley, Eleanor ; Grob, Francisca ; McGillivray, George...
Journal of Paediatrics and Child Health.  , 2024
Link: https://doi.org/10.1111/..
 
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2

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics.  111 (2024)  3 - p. 487-508 , 2024
Link: https://doi.org/10.1016/..
 
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3

Narrowing the diagnostic gap: Genomes, episignatures, long-..:

Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah...
Genetics in Medicine.  26 (2024)  5 - p. 101076 , 2024
Link: https://doi.org/10.1016/..
 
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4

Klinefelter Syndrome: What should we tell prospective paren..:

White, Mary ; Zacharin, Margaret R. ; Fawcett, Susan.
Prenatal Diagnosis.  43 (2022)  2 - p. 240-249 , 2022
Link: https://doi.org/10.1002/..
 
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5

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María...
Genetics in Medicine.  24 (2022)  11 - p. 2351-2366 , 2022
Link: https://doi.org/10.1016/..
 
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6

Mosaicism in tuberous sclerosis complex: Lowering the thres..:

Ye, Zimeng ; Lin, Sufang ; Zhao, Xia...
Human Mutation.  43 (2022)  12 - p. 1956-1969 , 2022
Link: https://doi.org/10.1002/..
 
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7

Increased nuchal translucency after low‐risk noninvasive pr..:

Kelley, Joanne ; McGillivray, George ; Meagher, Simon.
Prenatal Diagnosis.  41 (2021)  10 - p. 1305-1315 , 2021
Link: https://doi.org/10.1002/..
 
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8

Biallelic hypomorphic variants in ALDH1A2 cause a novel let..:

Beecroft, Sarah J. ; Ayala, Marcos ; McGillivray, George...
Human Mutation.  42 (2021)  5 - p. 506-519 , 2021
Link: https://doi.org/10.1002/..
 
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9

Bi-allelic variants in IPO8 cause a connective tissue disor..:

Ziegler, Alban ; Duclaux-Loras, Rémi ; Revenu, Céline...
The American Journal of Human Genetics.  108 (2021)  6 - p. 1126-1137 , 2021
Link: https://doi.org/10.1016/..
 
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10

Study protocol: childhood outcomes of fetal genomic variant..:

Hui, Lisa ; Pynaker, Cecilia ; Kennedy, Joanne...
BMC Pediatrics.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Rec..:

Frazier, Ann E. ; Compton, Alison G. ; Kishita, Yoshihito...
Med.  2 (2021)  1 - p. 49-73.e10 , 2021
Link: https://doi.org/10.1016/..
 
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12

A new case of Greenberg dysplasia and literature review sug..:

Gregersen, Pernille A. ; McKay, Victoria ; Walsh, Maie...
Molecular Genetics & Genomic Medicine.  8 (2020)  6 - p. , 2020
Link: https://doi.org/10.1002/..
 
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13

Whole Exome Sequencing (WES) enhances the diagnostic rate o..:

Chan, Fiona ; Yeung, Alison ; Vasudevan, Anand...
Pathology.  52 (2020)  - p. S68-S69 , 2020
Link: https://doi.org/10.1016/..
 
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14

Evaluating systematic reanalysis of clinical genomic data i..:

Tan, Natalie B. ; Stapleton, Rachel ; Stark, Zornitza...
Molecular Genetics & Genomic Medicine.  8 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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15

A cost-effectiveness analysis of genomic sequencing in a pr..:

Yeung, Alison ; Tan, Natalie B. ; Tan, Tiong Y....
Genetics in Medicine.  22 (2020)  12 - p. 1986-1993 , 2020
Link: https://doi.org/10.1038/..
 
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