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1 . Academic Journal
Mitochondria in human disease.
저자
by
Larsson, N.‐G.
;
Wedell, A.
;
Larsson, N-G
.
소스
Journal of Internal Medicine
. Jun2020, Vol. 287 Issue 6, p589-591. 3p.
Web of Science
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5 . Academic Journal
Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders
저자
by
Stranneheim, H.
;
Wedell, A.
.
소스
Journal of Internal Medicine
. Jan 01, 2016 279(1):3-15
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4 . Academic Journal
Advanced Pubertal Development in Two Adolescents with New SF-1 Mutations
저자
by
Hoebeke, Piet
;
Cools, Martine
;
Hersmus, R.
;
Brüggenwirth, H.
;
Barbaro, M.
, et al.
소스
In
Journal of Pediatric Urology
2010 6 Supplement 1:S87-S88
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7 . Academic Journal
An Update on the Molecular Genetics of Congenital Adrenal Hyperplasia: Diagnostic and Therapeutic Aspects
저자
by
Wedell, A.
.
소스
Journal of Pediatric Endocrinology and Metabolism
. 11(5):581-590
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3 . Academic Journal
Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform
저자
by
Norling, A.
;
Hirschberg, A.L.
;
Rodriguez-Wallberg, K.A.
;
Iwarsson, E.
;
Wedell, A.
, et al.
소스
Human Reproduction
. Aug 01, 2014 29(8):1818-1827
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7 . Academic Journal
No Mutations in the PSMC3IP Gene Identified in a Swedish Cohort of Women with Primary Ovarian Insufficiency.
저자
by
Norling, a.
;
Hirschberg, a.L.
;
Karlsson, L.
;
Rodriguez-Wallberg, K.a.
;
Iwarsson, E.
, et al.
소스
Sexual Development
. Aug2014, Vol. 8 Issue 4, p146-150. 5p.
Web of Science
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7 . Academic Journal
Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden
저자
by
Strandqvist, A.
;
Falhammar, H.
;
Lichtenstein, P.
;
Hirschberg, A. L.
;
Wedell, A.
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. Apr 01, 2014 99(4):1425-1432
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7 . Academic Journal
Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.
저자
by
Cools, M.
;
Hoebeke, P.
;
Wolffenbuttel, K. P.
;
Stoop, H.
;
Hersmus, R.
, et al.
소스
European Journal of Endocrinology
. Feb2012, Vol. 166 Issue 2, p341-349. 9p.
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7 . Academic Journal
Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development.
저자
by
Barbaro, M.
;
Cools, M.
;
Looijenga, L.H.J.
;
Drop, S.L.S.
;
Wedell, A.
.
소스
Sexual Development; Jul2011, Vol. 5 Issue 4, p181-187, 7p
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7 . Academic Journal
Disorders of sex development.
저자
by
Barbaro, M.
;
Wedell, A.
;
Nordenström, A.
.
소스
Seminars in Fetal & Neonatal Medicine; Apr2011, Vol. 16 Issue 2, p119-127, 9p
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