-
1
-
-
84896691791
-
DNA sequencing versus standard prenatal aneuploidy screening
-
Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370(9):799-808, DOI:10.1056/NEJMoa1311037.
-
(2014)
N Engl J Med
, vol.370
, Issue.9
, pp. 799-808
-
-
Bianchi, D.W.1
Parker, R.L.2
Wentworth, J.3
-
2
-
-
84897589453
-
Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center
-
Lau TK, Cheung SW, Lo PSS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol, Off J Int Soc Ultrasound Obstet Gynecol 2014;43(3):254-64, DOI:10.1002/uog.13277.
-
(2014)
Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol
, vol.43
, Issue.3
, pp. 254-264
-
-
Lau, T.K.1
Cheung, S.W.2
Lo, P.S.S.3
-
3
-
-
84933673322
-
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach
-
Chitty LS, Mason S, Barrett AN, et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn 2015;35(7):656-62, DOI:10.1002/pd.4583.
-
(2015)
Prenat Diagn
, vol.35
, Issue.7
, pp. 656-662
-
-
Chitty, L.S.1
Mason, S.2
Barrett, A.N.3
-
4
-
-
84943348860
-
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis
-
Hill M, Twiss P, Verhoef TI, et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn 2015;35(10):950-8, DOI:10.1002/pd.4585.
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 950-958
-
-
Hill, M.1
Twiss, P.2
Verhoef, T.I.3
-
5
-
-
84943233998
-
Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes
-
Filges I, Friedman JM. Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes. Prenat Diagn 2015;35(10):1005-9, DOI:10.1002/pd.4464.
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 1005-1009
-
-
Filges, I.1
Friedman, J.M.2
-
6
-
-
84870568851
-
Clinical diagnosis by whole-genome sequencing of a prenatal sample
-
Talkowski ME, Ordulu Z, Pillalamarri V, et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med 2012;367(23):2226-32. DOI:10.1056/NEJMoa1208594.
-
(2012)
N Engl J Med
, vol.367
, Issue.23
, pp. 2226-2232
-
-
Talkowski, M.E.1
Ordulu, Z.2
Pillalamarri, V.3
-
7
-
-
77951559072
-
Phenotypic spectrum of MFN2 mutations in the Spanish population
-
Casasnovas C, Banchs I, Cassereau J, et al. Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 2010;47(4):249-56. DOI:10.1136/jmg.2009.072488.
-
(2010)
J Med Genet
, vol.47
, Issue.4
, pp. 249-256
-
-
Casasnovas, C.1
Banchs, I.2
Cassereau, J.3
-
8
-
-
84878847340
-
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion
-
Vielhaber S, Debska-Vielhaber G, Peeva V, et al. Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. Acta Neuropathol (Berl) 2013;125(2):245-56. DOI:10.1007/s00401-012-1036-y.
-
(2013)
Acta Neuropathol (Berl)
, vol.125
, Issue.2
, pp. 245-256
-
-
Vielhaber, S.1
Debska-Vielhaber, G.2
Peeva, V.3
-
9
-
-
84905996534
-
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features
-
Bombelli F, Stojkovic T, Dubourg O, et al. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol 2014;71(8):1036-42. DOI:10.1001/jamaneurol.2014.629.
-
(2014)
JAMA Neurol
, vol.71
, Issue.8
, pp. 1036-1042
-
-
Bombelli, F.1
Stojkovic, T.2
Dubourg, O.3
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