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1 . Academic Journal
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
저자
by
Wohlleber, Eva
;
Kirchhoff, Maria
;
Zink, Alexander M.
;
Kreiß-Nachtsheim, Martina
;
Küchler, Alma
, et al.
소스
In
European Journal of Medical Genetics
2011 54(1):67-72
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7 . Academic Journal
6 - Re-Examination of Danish Carriers of Balanced Chromosomal Inversions
저자
by
Rasmussen, Malene B.
;
Bache, Iben
;
Mehrjouy, Mana M.
;
Silahtaroglu, Asli
;
Kjærgaard, Susanne
, et al.
소스
In
Cancer Genetics
May 2016 209(5):231-231
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7 . Academic Journal
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
저자
by
Halgren, Christina
;
Nielsen, Nete M.
;
Nazaryan-Petersen, Lusine
;
Silahtaroglu, Asli
;
Collins, Ryan L.
, et al.
소스
American Journal of Human Genetics
. Jun2018, Vol. 102 Issue 6, p1090-1103. 14p.
Full Text (ScienceDirect)
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7 . Academic Journal
National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark
저자
by
Lou, Stina
;
Petersen, Olav B.
;
Jørgensen, Finn S.
;
Lund, Ida C.B.
;
Kjærgaard, Susanne
, et al.
소스
Acta Obstetricia et Gynecologica Scandinavica
. Feb 01, 2018 97(2):195-203
Open Access (Wiley)
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7 . Academic Journal
Correlation between Z score, fetal fraction, and sequencing reads in non‐invasive prenatal testing
저자
by
Balslev‐Harder, Marie
;
Richter, Stine R.
;
Kjærgaard, Susanne
;
Johansen, Peter
.
소스
Prenatal Diagnosis
. Sep 01, 2017 37(9):943-945
Scopus
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6 . Academic Journal
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
저자
by
Guissart, Claire
;
Latypova, Xenia
;
Rollier, Paul
;
Khan, Tahir N.
;
Stamberger, Hannah
, et al.
소스
American Journal of Human Genetics
. May2018, Vol. 102 Issue 5, p744-759. 16p.
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7 . Academic Journal
Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening.
저자
by
Miltoft, Caroline Borregaard
;
Wulff, Camilla B.
;
Kjærgaard, Susanne
;
Ekelund, Charlotte K.
;
Tabor, ann
.
소스
Fetal Diagnosis & Therapy
. Apr2017, Vol. 41 Issue 3, p209-214. 6p.
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7 . Academic Journal
Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review.
저자
by
Castberg, Filip Christian
;
Kjaergaard, Susanne
;
Mosig, Rebecca A
;
Lobl, Mollie
;
Martignetti, Chiara
, et al.
소스
European Journal of Pediatrics
(EUR J PEDIATR), Dec2013; 172(12): 1657-1663. (7p)
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7 . Academic Journal
Open source non-invasive prenatal testing platform and its performance in a public health laboratory.
저자
by
Johansen, Peter
;
Richter, Stine R.
;
Balslev‐Harder, Marie
;
Miltoft, Caroline B.
;
Tabor, Ann
, et al.
소스
Prenatal Diagnosis; Jun2016, Vol. 36 Issue 6, p530-536, 7p
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7 . Academic Journal
Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation
저자
by
Grnborg, Sabine
;
Kjaergaard, Susanne
;
Hove, Hanne
;
Larsen, Vibeke André
;
Kirchhoff, Maria
.
소스
American Journal Of Medical Genetics - A
. Nov 01, 2015 167(11):2731-2736
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