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Pepin, Melanie
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1

Biallelic variants in MESD, which encodes a WNT-signaling-r..:

Tran, Thao T. ; Keller, Rachel B. ; Guillemyn, Brecht...
Human Genetics and Genomics Advances.  2 (2021)  4 - p. 100051 , 2021
Link: https://doi.org/10.1016/..
 
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2

Growth characteristics in individuals with osteogenesis imp..:

Jain, Mahim ; Tam, Allison ; Shapiro, Jay R....
Genetics in Medicine.  21 (2019)  2 - p. 275-283 , 2019
Link: https://doi.org/10.1038/..
 
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3

A Multicenter Observational Cohort Study to Evaluate the Ef..:

Bains, Jaskaran S ; Carter, Erin M ; Citron, Kate P...
JBMR Plus.  3 (2019)  5 - p. , 2019
Link: https://doi.org/10.1002/..
 
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4

Diagnosis, natural history, and management in vascular Ehle..:

Byers, Peter H. ; Belmont, John ; Black, James...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  175 (2017)  1 - p. 40-47 , 2017
Link: https://doi.org/10.1002/..
 
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5

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations i..:

Kapferer-Seebacher, Ines ; Pepin, Melanie ; Werner, Roland...
The American Journal of Human Genetics.  99 (2016)  5 - p. 1005-1014 , 2016
Link: https://doi.org/10.1016/..
 
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6

Pregnancy-related deaths and complications in women with va..:

Murray, Mitzi L. ; Pepin, Melanie ; Peterson, Suzanne.
Genetics in Medicine.  16 (2014)  12 - p. 874-880 , 2014
Link: https://doi.org/10.1038/..
 
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7

Authors' Response:

Pepin, Melanie ; Byers, Peter H. ; Shields, Lisa B.E....
Journal of Forensic Sciences.  56 (2011)  5 - p. 1397-1397 , 2011
Link: https://doi.org/10.1111/..
 
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8

Issues and Management of Joint Hypermobility: A Guide for t..:

Pepin, Melanie
Journal of Genetic Counseling.  18 (2009)  4 - p. 401-402 , 2009
Link: https://doi.org/10.1007/..
 
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9

MRI of great vessel morphology and function in Ehlers-Danlo..:

Kerwin, William ; Pepin, Melanie ; Mitsumori, Lee...
The International Journal of Cardiovascular Imaging.  24 (2007)  5 - p. 519-528 , 2007
Link: https://doi.org/10.1007/..
 
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10

Genetic evaluation of suspected osteogenesis imperfecta (OI:

Byers, Peter H. ; Krakow, Deborah ; Nunes, Mark E..
Genetics in Medicine.  8 (2006)  6 - p. 383-388 , 2006
Link: https://doi.org/10.1097/..
 
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11

Spontaneous Direct Carotid-Cavernous Fistula in Ehlers-Danl..:

Chuman, Hideki ; Trobe, Jonathan D. ; Petty, Elizabeth M....
Journal of Neuro-Ophthalmology.  22 (2002)  2 - p. 75-81 , 2002
Link: https://doi.org/10.1097/..
 
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12

Clinical and Genetic Features of Ehlers-Danlos Syndrome Typ..:

Pepin, Melanie ; Schwarze, Ulrike ; Superti-Furga, Andrea.
Obstetrical & Gynecological Survey.  55 (2000)  8 - p. 469-471 , 2000
Link: https://doi.org/10.1097/..
 
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13

STRATEGIES AND OUTCOMES OF PRENATAL DIAGNOSIS FOR OSTEOGENE..:

PEPIN, MELANIE ; ATKINSON, MARY ; STARMAN, BARBRA J..
Prenatal Diagnosis.  17 (1997)  6 - p. 559-570 , 1997
Link: https://doi.org/10.1002/..
 
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14

Studies of collagen synthesis and structure in the differen..:

Steiner, Robert D. ; Pepin, Melanie ; Byers, Peter H.
The Journal of Pediatrics.  128 (1996)  4 - p. 542-547 , 1996
Link: https://doi.org/10.1016/..
 
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15

Monoallelic and biallelic CREB3L1 variant causes mild and s..:

Keller, Rachel B. ; Tran, Thao T. ; Pyott, Shawna M....
Genetics in Medicine.  20 (2018)  4 - p. 411-419 , 2018
Link: https://doi.org/10.1038/..
 
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