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1 . Academic Journal
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan
저자
by
Ijaz, Ambreen
;
Wolf, Sabrina
;
Mandukhail, Safur Rehman
;
Basit, Sulman
;
Betz, Regina C.
, et al.
소스
In
Journal of Dermatological Science
September 2019 95(3):113-118
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7 . Academic Journal
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis
저자
by
Ralser, Damian J.
;
Takeuchi, Hideyuki
;
Fritz, Günter
;
Basmanav, F. Buket
;
Effern, Maike
, et al.
소스
In
Journal of Investigative Dermatology
April 2019 139(4):960-964
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7 . Academic Journal
TP63-related disorders: two case reports and a brief review of the literature.
저자
by
Nanda, Arti
;
AlLafi, Atlal
;
Wolf, Sabrina
;
AlMasry, Iman M.
;
Betz, Regina
.
소스
Dermatology Online Journal; 2021, Vol. 27 Issue 11, p1-6, 6p
Scopus
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7 . Academic Journal
Eine Frau mit hyperpigmentierten Maculae und Papeln.
저자
by
Schnabel, Viktor
;
Hermasch, Matthias A.
;
Wolf, Sabrina
;
Schön, Michael P.
;
Betz, Regina C.
, et al.
소스
Journal der Deutschen Dermatologischen Gesellschaft; Nov2021, Vol. 19 Issue 11, p1655-1659, 5p
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7 . Academic Journal
A woman with hyperpigmented macules and papules.
저자
by
Schnabel, Viktor
;
Hermasch, Matthias A.
;
Wolf, Sabrina
;
Schön, Michael P.
;
Betz, Regina C.
, et al.
소스
Journal der Deutschen Dermatologischen Gesellschaft; Nov2021, Vol. 19 Issue 11, p1656-1660, 5p
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7 . Academic Journal
Advances in metabolic engineering of Corynebacterium glutamicum to produce high-value active ingredients for food, feed, human health, and well-being.
저자
by
Wolf, Sabrina
;
Becker, Judith
;
Yota Tsuge
;
Hideo Kawaguchi
;
Akihiko Kondo
, et al.
소스
Essays in Biochemistry; Jul2021, Vol. 65 Issue 2, p197-212, 16p
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7 . Academic Journal
Hair loss, facial dysmorphology, and skeletal alterations – a diagnostic challenge.
저자
by
Kondo, Rogério Nabor
;
Basmanav, Fitnat Buket
;
Wolf, Sabrina
;
Minelli, Lorivaldo
;
Frank, Jorge
, et al.
소스
International Journal of Dermatology
. Oct2021, Vol. 60 Issue 10, pe419-e421. 3p.
Web of Science
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7 . Academic Journal
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
저자
by
Schlaweck, Annika E.
;
Tazi-Ahnini, Rachid
;
Ü. Basmanav, F. Buket
;
Mohungoo, Javed
;
Pasternack-Ziach, Sandra M.
, et al.
소스
PLoS ONE
. 12/2/2019, Vol. 14 Issue 12, p1-9. 9p.
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7 . Academic Journal
Release from natural enemies mitigates inbreeding depression in native and invasive Silene latifolia populations.
저자
by
Schrieber, Karin
;
Wolf, Sabrina
;
Wypior, Catherina
;
Höhlig, Diana
;
Keller, Stephen R.
, et al.
소스
Ecology & Evolution (20457758)
. Mar2019, Vol. 9 Issue 6, p3564-3576. 13p.
Open Access (Wiley)
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7 . Academic Journal
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
저자
by
Romano, Maria-Teresa
;
Tafazzoli, Aylar
;
Mattern, Maximilian
;
Sivalingam, Sugirthan
;
Wolf, Sabrina
, et al.
소스
American Journal of Human Genetics
. Nov2018, Vol. 103 Issue 5, p777-785. 9p.
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