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1 . Academic Journal
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
저자
by
Mencarelli, Maria Antonietta
;
Kleefstra, Tjitske
;
Katzaki, Eleni
;
Papa, Filomena Tiziana
;
Cohen, Monika
, et al.
소스
In
European Journal of Medical Genetics
2009 52(2):148-152
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7 . Academic Journal
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
저자
by
Beaman, Glenda M.
;
Lopes, Filipa M.
;
Hofmann, Aybike
;
Roesch, Wolfgang
;
Promm, Martin
, et al.
소스
Frontiers in Genetics; 6/23/2022, Vol. 13, p1-14, 14p
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7 . Academic Journal
Multiplex-FISH for Pre- and Postnatal Diagnostic Applications
저자
by
Uhrig, Sabine
;
Schuffenhauer, Simone
;
Fauth, Christine
;
Wirtz, Antje
;
Daumer-Haas, Cornelia
, et al.
소스
In
The American Journal of Human Genetics
August 1999 65(2):448-462
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7 . Academic Journal
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
저자
by
Melo, Uirá Souto
;
Schöpflin, Robert
;
Acuna-Hidalgo, Rocio
;
Mensah, Martin Atta
;
Fischer-Zirnsak, Björn
, et al.
소스
American Journal of Human Genetics
. Jun2020, Vol. 106 Issue 6, p872-884. 13p.
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7 . Academic Journal
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy
저자
by
Jaklin, Christian
;
Heiliger, Katrin
;
Hempel, Maja
;
Sollacher, Doris
;
Cohen, Monika
, et al.
소스
In
European Journal of Medical Genetics
October 2012 55(10):568-572
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7 . Periodical
Genetics of intellectual disability in consanguineous families
저자
by
Hu, Hao
;
Kahrizi, Kimia
;
Musante, Luciana
;
Fattahi, Zohreh
;
Herwig, Ralf
, et al.
소스
Molecular Psychiatry; July 2019, Vol. 24 Issue: 7 p1027-1039, 13p
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7 . Academic Journal
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
저자
by
Schossig, Anna
;
Bloch-Zupan, Agnès
;
Lussi, Adrian
;
Wolf, Nicole I.
;
Raskin, Salmo
, et al.
소스
Journal of Medical Genetics; Jan2017, Vol. 54 Issue 1, p54-62, 10p
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7 . Periodical
SLC13A5is the second gene associated with Kohlschutter–Tonz syndrome
저자
by
Schossig, Anna
;
Bloch-Zupan, Agnès
;
Lussi, Adrian
;
Wolf, Nicole I
;
Raskin, Salmo
, et al.
소스
Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 1 p54-62, 9p
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7 . Academic Journal
A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
저자
by
Huang, Lingli
;
Jolly, Lachlan A.
;
Willis-Owen, Saffron
;
Gardner, Alison
;
Kumar, Raman
, et al.
소스
American Journal of Human Genetics
. Oct2012, Vol. 91 Issue 4, p694-702. 9p.
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7 . Academic Journal
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
저자
by
Najmabadi, Hossein
;
Hu, Hao
;
Garshasbi, Masoud
;
Zemojtel, Tomasz
;
Abedini, Seyedeh Sedigheh
, et al.
소스
Nature
. Oct 06, 2011 478(7367):57-63
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