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1 . Academic Journal
Epilepsy and trisomy 19q—different seizure patterns in a brother and a sister
저자
by
Dorn, T
;
Riegel, M
;
Schinzel, A
;
Siegel, A.M
;
Krämer, G
.
소스
In
Epilepsy Research
2001 47(1):119-126
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7 . Academic Journal
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
저자
by
Rossi, E
;
Riegel, M
;
Messa, J
;
Gimelli, S
;
Maraschio, P
, et al.
소스
Journal of Medical Genetics; Mar2008, Vol. 45 Issue 3, p147-154, 8p, 1 Color Photograph, 2 Charts, 2 Graphs
Full Text (BMJ Journals)
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7 . Academic Journal
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
저자
by
Bartholdi, D
;
Krajewska-Walasek, M
;
Õunap, K
;
Gaspar, H
;
Chrzanowska, K H
, et al.
소스
Journal of Medical Genetics
. Mar 01, 2009 46(3):192-197
Full Text (BMJ Journals)
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7 . Academic Journal
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
저자
by
Witsch-Baumgartner, M
;
Schwentner, I
;
Gruber, M
;
Benlian, P
;
Bertranpetit, J
, et al.
소스
Journal of Medical Genetics
. Apr 01, 2008 45(4):200-209
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7 . Academic Journal
Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.
저자
by
Fokstuen, Siv
;
Vrticka, Karel
;
Riegel, Mariluce
;
Da Silva, Vinzent
;
Baumer, Alessandra
, et al.
소스
European Journal of Pediatrics
. 2001, Vol. 160 Issue 1, p54-57. 4p.
Full Text (Springer)
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7 . Academic Journal
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
저자
by
Schulz, A L
;
Albrecht, B
;
Arici, C
;
van der Burgt, I
;
Buske, A
, et al.
소스
Clinical Genetics
. Jan 01, 2008 73(1):62-70
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7 . Academic Journal
No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation.
저자
by
Kotzot, D
;
Lurie, IW
;
Méhes, K
;
Werder, E
;
Schinzel, A
.
소스
Clinical Genetics
. Sep2000, Vol. 58 Issue 3, p177-180. 4p. 1 Chart.
Web of Science
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7 . Academic Journal
Prenatal diagnosis of mosaicism for a del(22)(q13).
저자
by
Riegel, Mariluce
;
Baumer, Alessandra
;
Wisser, Josef
;
Acherman, Josef
;
Schinzel, Albert
, et al.
소스
Prenatal Diagnosis; Jan2000, Vol. 20 Issue 1, p76-79, 4p
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7 . Academic Journal
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
저자
by
De Gregori, M
;
Ciccone, R
;
Magini, P
;
Pramparo, T
;
Gimelli, S
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Dec 01, 2007 44(12):750-762
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7 . Academic Journal
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene
저자
by
Bartholdi, D
;
Klein, A
;
Weissert, M
;
Koenig, N
;
Baumer, A
, et al.
소스
Clinical Genetics
. Apr 01, 2006 69(4):319-326
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