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8 results for ACMG+Practice+Resource

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ArticlesPeer ReviewedFull Text
Focused Revision: ACMG practice resource: Genetic evaluation of short stature
Author / Creator:Mintz, Cassie S. ; Seaver, Laurie H. ; Irons, Mira ; Grimberg, Adda ; Lozano, Reymundo
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-05, Vol.23 (5), p.813-815
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ArticlesPeer ReviewedFull Text
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Gregg, Anthony R. ; Aarabi, Mahmoud ; Klugman, Susan ; Leach, Natalia T. ; Bashford, Michael T. ; Goldwaser, Tamar ; Chen, Emily ; Sparks, Teresa N. ; Reddi, Honey V. ; Rajkovic, Aleksandar ; Dungan, Jeffrey S.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.1793-1806
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ArticlesPeer ReviewedFull Text
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Hershberger, Ray E. ; Givertz, Michael M. ; Ho, Carolyn Y ; Judge, Daniel P. ; Kantor, Paul F. ; McBride, Kim L. ; Morales, Ana ; Taylor, Matthew R. G. ; Vatta, Matteo ; Ware, Stephanie M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-09, Vol.20 (9), p.899-909
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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Tischkowitz, Marc ; Balmaña, Judith ; Foulkes, William D. ; James, Paul ; Ngeow, Joanne ; Schmutzler, Rita ; Voian, Nicoleta ; Wick, Myra J. ; Stewart, Douglas R. ; Pal, Tuya
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1416-1423
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Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Kishnani, Priya S. ; Goldstein, Jennifer ; Austin, Stephanie L. ; Arn, Pamela ; Bachrach, Bert ; Bali, Deeksha S. ; Chung, Wendy K. ; El-Gharbawy, Areeg ; Brown, Laurie M. ; Kahler, Stephen ; Pendyal, Surekha ; Ross, Katalin M. ; Tsilianidis, Laurie ; Weinstein, David A. ; Watson, Michael S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.772-789
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ArticlesPeer ReviewedFull Text
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medica...
Author / Creator:Waggoner, Darrel ; Wain, Karen E. ; Dubuc, Adrian M. ; Conlin, Laura ; Hickey, Scott E. ; Lamb, Allen N. ; Martin, Christa Lese ; Morton, Cynthia C. ; Rasmussen, Kristen ; Schuette, Jane L. ; Schwartz, Stuart ; Miller, David T.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-10, Vol.20 (10), p.1105-1113
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Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:McBride, Kim L. ; Berry, Susan A. ; Braverman, Nancy
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-11, Vol.22 (11), p.1735-1742
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ArticlesPeer ReviewedFull Text
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Cherry, Athena M ; Akkari, Yassmine M ; Barr, Kimberly M ; Kearney, Hutton M ; Rose, Nancy C ; South, Sarah T ; Tepperberg, James H ; Meck, Jeanne M
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2017-08, Vol.19 (8), p.845-850
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Focused Revision: ACMG practice resource: Genetic evaluation of short stature

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Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

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Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

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Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medica...

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Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

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