Etiology
Rose NC,
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ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
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Boter M,
Diderich KEM,
de Die-Smulders CEM,
Duin LK,
Faas BHW,
Feenstra I,
Haak MC,
Hoffer MJV,
den Hollander NS,
Hollink IHIM,
Jehee FS,
Knapen MFCM,
Kooper AJA,
van Langen IM,
Lichtenbelt KD,
Linskens IH,
van Maarle MC,
Oepkes D,
Pieters MJ,
Schuring-Blom GH,
Sikkel E,
Sikkema-Raddatz B,
Smeets DFCM,
Srebniak MI,
Suijkerbuijk RF,
Tan-Sindhunata GM,
van der Ven AJEM,
van Zelderen-Bhola SL,
Henneman L,
Galjaard RH,
Van Opstal D,
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Dutch NIPT Consortium
Am J Hum Genet
2019 Dec 5;105(6):1091-1101.
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Diagnosis
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ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med
2022 Jul;24(7):1379-1391.
Epub 2022 May 24
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Weaver MS,
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Nance A,
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Sipek A,
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Szabova E,
Lapchenko S,
Zarante I,
Hurtado-Villa P,
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Am J Med Genet A
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Harraway J
Aust Fam Physician
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Therapy
Rose NC,
Barrie ES,
Malinowski J,
Jenkins GP,
McClain MR,
LaGrave D,
Leung ML;
ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med
2022 Jul;24(7):1379-1391.
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Prognosis
Boddupally K,
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van der Meij KRM,
Sistermans EA,
Macville MVE,
Stevens SJC,
Bax CJ,
Bekker MN,
Bilardo CM,
Boon EMJ,
Boter M,
Diderich KEM,
de Die-Smulders CEM,
Duin LK,
Faas BHW,
Feenstra I,
Haak MC,
Hoffer MJV,
den Hollander NS,
Hollink IHIM,
Jehee FS,
Knapen MFCM,
Kooper AJA,
van Langen IM,
Lichtenbelt KD,
Linskens IH,
van Maarle MC,
Oepkes D,
Pieters MJ,
Schuring-Blom GH,
Sikkel E,
Sikkema-Raddatz B,
Smeets DFCM,
Srebniak MI,
Suijkerbuijk RF,
Tan-Sindhunata GM,
van der Ven AJEM,
van Zelderen-Bhola SL,
Henneman L,
Galjaard RH,
Van Opstal D,
Weiss MM;
Dutch NIPT Consortium
Am J Hum Genet
2019 Dec 5;105(6):1091-1101.
Epub 2019 Nov 7
doi: 10.1016/j.ajhg.2019.10.005.
PMID: 31708118Free PMC Article
Goel N,
Morris JK,
Tucker D,
de Walle HEK,
Bakker MK,
Kancherla V,
Marengo L,
Canfield MA,
Kallen K,
Lelong N,
Camelo JL,
Stallings EB,
Jones AM,
Nance A,
Huynh MP,
Martínez-Fernández ML,
Sipek A,
Pierini A,
Nembhard WN,
Goetz D,
Rissmann A,
Groisman B,
Luna-Muñoz L,
Szabova E,
Lapchenko S,
Zarante I,
Hurtado-Villa P,
Martinez LE,
Tagliabue G,
Landau D,
Gatt M,
Dastgiri S,
Morgan M
Am J Med Genet A
2019 Dec;179(12):2382-2392.
Epub 2019 Sep 30
doi: 10.1002/ajmg.a.61365.
PMID: 31566869Free PMC Article
Clinical prediction guides
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Rani Thuraka E
Clin Chim Acta
2024 Jan 1;552:117669.
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Scott F,
Smet ME,
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Mogra R,
Sunderland L,
Ferreira A,
Menezes M,
Meagher S,
McLennan A
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Boter M,
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Faas BHW,
Feenstra I,
Haak MC,
Hoffer MJV,
den Hollander NS,
Hollink IHIM,
Jehee FS,
Knapen MFCM,
Kooper AJA,
van Langen IM,
Lichtenbelt KD,
Linskens IH,
van Maarle MC,
Oepkes D,
Pieters MJ,
Schuring-Blom GH,
Sikkel E,
Sikkema-Raddatz B,
Smeets DFCM,
Srebniak MI,
Suijkerbuijk RF,
Tan-Sindhunata GM,
van der Ven AJEM,
van Zelderen-Bhola SL,
Henneman L,
Galjaard RH,
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2019 Dec 5;105(6):1091-1101.
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