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1 . Academic Journal
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
저자
by
Mah-Som, Annelise Y.
;
Daw, Jil
;
Huynh, Diana
;
Wu, Mengcheng
;
Creekmore, Benjamin C.
, et al.
소스
In
The American Journal of Human Genetics
2 November 2023 110(11):1959-1975
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7 . Academic Journal
Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
저자
by
Kaufmann, Lukas
;
Pilic, Johannes
;
Auinger, Lisa
;
Mayer, Anna‐Lena
;
Blatterer, Jasmin
, et al.
소스
Clinical Genetics
. Oct2023, Vol. 104 Issue 4, p491-496. 6p.
Web of Science
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7 . Academic Journal
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
저자
by
Verheyen, Sarah
;
Blatterer, Jasmin
;
Speicher, Michael R.
;
Bhavani, Gandham SriLakshmi
;
Boons, Geert-Jan
, et al.
소스
Journal of Medical Genetics; Oct2022, Vol. 59 Issue 10, p957-964, 8p
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7 . Academic Journal
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
저자
by
Vogt, Guido
;
Verheyen, Sarah
;
Schwartzmann, Sarina
;
Ehmke, Nadja
;
Potratz, Cornelia
, et al.
소스
Journal of Medical Genetics; Jul2022, Vol. 59 Issue 7, p662-668, 10p
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7 . Academic Journal
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
저자
by
Muzammal, Muhammad
;
Ali, Muhammad Zeeshan
;
Brugger, Beatrice
;
Blatterer, Jasmin
;
Ahmad, Safeer
, et al.
소스
Metabolic Brain Disease
. Jan2022, Vol. 37 Issue 1, p243-252. 10p.
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7 . Periodical
Biallelic truncating variants in ATP9Acause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
저자
by
Vogt, Guido
;
Verheyen, Sarah
;
Schwartzmann, Sarina
;
Ehmke, Nadja
;
Potratz, Cornelia
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 7 p662-668, 7p
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7 . Academic Journal
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
저자
by
Voisin, Norine
;
Schnur, Rhonda E.
;
Douzgou, Sofia
;
Hiatt, Susan M.
;
Rustad, Cecilie F.
, et al.
소스
American Journal of Human Genetics
. May2021, Vol. 108 Issue 5, p857-873. 17p.
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7 . Academic Journal
Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.
저자
by
Muin, Dana A.
;
Kollmann, Martina
;
Blatterer, Jasmin
;
Hoermann, Gregor
;
Husslein, Peter W.
, et al.
소스
Scientific Reports
. 3/24/2021, Vol. 11 Issue 1, p1-8. 8p.
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7 . Academic Journal
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
저자
by
Abbas, Safdar
;
Brugger, Beatrice
;
Zubair, Muhammad
;
Gul, Sana
;
Blatterer, Jasmin
, et al.
소스
Neurological Research; Feb2021, Vol. 43 Issue 2, p133-140, 8p
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7 . Academic Journal
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
저자
by
Abbas, Safdar
;
Brugger, Beatrice
;
Zubair, Muhammad
;
Gul, Sana
;
Blatterer, Jasmin
, et al.
소스
NEUROLOGICAL RESEARCH
; NOV 29 2020, 8p.
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