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David Flannery
David Flannery
在 ccf.org 的电子邮件经过验证
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引用次数
引用次数
年份
Verification of the fetal valproate syndrome phenotype
HH Ardinger, JF Atkin, RD Blackston, LJ Elsas, SK Clarren, S Livingstone, ...
American journal of medical genetics 29 (1), 171-185, 1988
3691988
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
JJ Johnston, I Olivos-Glander, C Killoran, E Elson, JT Turner, KF Peters, ...
The American Journal of Human Genetics 76 (4), 609-622, 2005
3102005
Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.
IT Thomas, JL Frias, ES Cantu, CZ Lafer, DB Flannery, JG Graham Jr
American journal of human genetics 45 (2), 193, 1989
1701989
Current conditions in medical genetics practice
DR Maiese, A Keehn, M Lyon, D Flannery, M Watson, ...
Genetics in Medicine 21 (8), 1874-1877, 2019
1202019
Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
KL David, RG Best, LM Brenman, L Bush, JL Deignan, D Flannery, ...
Genetics in Medicine 21 (4), 769-771, 2019
1192019
Current status of hyperammonemic syndromes
DB Flannery, YE Hsia, B Wolf
Hepatology 2 (4), 495S-506S, 1982
931982
Association of low blood manganese concentrations with epilepsy
GF Carl, CL Keen, BB Gallagher, MS Clegg, WH Littleton, DB Flannery, ...
Neurology 36 (12), 1584-1584, 1986
881986
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome
CE Schwartz, JP Johnson, B Holycross, TM Mandeville, TS Sears, ...
American journal of human genetics 43 (5), 597, 1988
701988
Nucleolar organizer region variants as a risk factor for Down syndrome.
CK Jackson-Cook, DB Flannery, LA Corey, WE Nance, JA Brown
American journal of human genetics 37 (6), 1049, 1985
631985
Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism
DB Flannery
American journal of medical genetics 35 (1), 18-21, 1990
621990
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats
P Stankiewicz, S Kulkarni, AV Dharmadhikari, S Sampath, SS Bhatt, ...
Human mutation 33 (1), 165-179, 2012
612012
Working groups of the national coordinating center for seven regional genetics service collaboratives. Current conditions in medical genetics practice
DR Maiese, A Keehn, M Lyon, D Flannery, M Watson
Genet Med 21 (8), 1874-1877, 2019
592019
Microdeletion of chromosome sub‐band 2q37. 3 in two patients with abnormal situs viscerum
KS Reddy, D Flannery, RJ Farrer
American journal of medical genetics 84 (5), 460-468, 1999
541999
The Schinzel-Giedion syndrome.
LI Al-Gazali, P Farndon, J Burn, DB Flannery, C Davison, RF Mueller
Journal of medical genetics 27 (1), 42, 1990
501990
A cutaneous marker of chromosomal mosaicism
DB Flannery
Am J Hum Genet 37, A93, 1985
431985
Building a regulatory and payment framework flexible enough to withstand technological progress
D Flannery, R Jarrin
Health Affairs 37 (12), 2052-2059, 2018
392018
Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia
DB Flannery, J Pellock, D Bousounis, P Hunt, C Nance, B Wolf
Neurology 33 (8), 1064-1064, 1983
381983
Hypertrichosis cubiti
DB Flannery, SM Fink, G Francis, PA Gilman
American journal of medical genetics 32 (4), 482-483, 1989
341989
Antenatally detected Klinefelter's syndrome in twins
DB Flannery, JA Brown, FO Redwine, P Winter, WE Nance
Acta geneticae medicae et gemellologiae: twin research 33 (1), 51-56, 1984
301984
Neural tube defects in trisomy 18
DB Flannery, SG Kahler
Prenatal diagnosis 6 (2), 97-99, 1986
291986
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