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Drummond‐Borg, Margaret
20  results:
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1

Classification of isolated versus multiple birth defects: A..:

Benjamin, Renata H. ; Nguyen, Joanne M. ; Drummond‐Borg, Margaret...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Evaluating the proportion of isolated cases among a spectru..:

Langlois, Peter H. ; Marengo, Lisa ; Lupo, Philip J....
Birth Defects Research.  , 2022
Link: https://doi.org/10.1002/..
 
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3

Identifying syndromes in studies of structural birth defect..:

Benjamin, Renata H. ; Mitchell, Laura E. ; Scheuerle, Angela E....
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 190-204 , 2022
Link: https://doi.org/10.1002/..
 
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4

Trisomy 22: No longer an enigma:

Kukolich, Mary K. ; Kulharya, Anita ; Jalal, S. M..
American Journal of Medical Genetics.  34 (1989)  4 - p. 541-544 , 1989
Link: https://doi.org/10.1002/..
 
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5

Newborn screening analytes and structural birth defects amo..:

Lupo, Philip J. ; Archer, Natalie P. ; Harris, Rachel D....
PLOS ONE.  19 (2024)  7 - p. e0304238 , 2024
Link: https://doi.org/10.1371/..
 
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6

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine.  26 (2024)  2 - p. 101023 , 2024
Link: https://doi.org/10.1016/..
 
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7

Genetic susceptibility to aminoglycoside ototoxicity: How m..:

Tang, Hsiao-Yuan ; Hutcheson, Eldridge ; Neill, Susan...
Genetics in Medicine.  4 (2002)  5 - p. 336-345 , 2002
Link: https://doi.org/10.1097/..
 
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8

Molecular Patterns of X Chromosome-Linked Color Vision Gene..:

Drummond-Borg, Margaret ; Deeb, Samir S. ; Motulsky, Arno G.
Proceedings of the National Academy of Sciences of the United States of America.  86 (1989)  3 - p. 983-987 , 1989
Link: https://www.jstor.org/st..
 
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9

Nonfluorescent dicentric Y in males with hypospadias:

Drummond-Borg, Margaret ; Pagon, Roberta A. ; Bradley, Cynthia M...
The Journal of Pediatrics.  113 (1988)  3 - p. 469-473 , 1988
Link: https://doi.org/10.1016/..
 
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10

Evaluating the proportion of isolated cases among a spectru..:

Langlois, Peter H ; Marengo, Lisa ; Lupo, Philip J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411263/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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11

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
qt9ff2t46d.  , 2021
Link: https://escholarship.org..
 
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12

Rare deleterious mutations of HNRNP genes result in shared ..:

Madelyn A. Gillentine ; Tianyun Wang ; Kendra Hoekzema...
https://doi.org/10.1186/s13073-021-00870-6.  , 2021
Link: https://doi.org/10.1186/..
 
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13

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056596/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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14

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
10.1186/s13073-021-00870-6.  , 2021
Link: https://hdl.handle.net/1..
 
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15

Inactivation of AMMECR1 is associated with growth, bone, an..:

Moysés-Oliveira, Mariana ; Giannuzzi, Giuliana ; Fish, Richard...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23373.  , 2018
Link: https://archive-ouverte...
 
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