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topic_facet:"Case Reports"
journalStr:"The Journal of clinical endocrinology and metabolism"
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PubPharm (425)
1
Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Parisien-La Salle, S.
|
Corbeil, G.
|
El-Haffaf, Z.
| +5
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2
A Novel Germline Deletion of p.C630 in RET Causes MTC and Promotes Cell Proliferation and Sensitivity to Pralsetinib
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Ma, X.
|
Ma, X.
|
Chin, L.
| +2
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3
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Costa, S.
|
Sampaio, L.
|
Berta Sousa, A.
| +3
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4
MEN4, the MEN1 Mimicker : A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Seabrook, A.
|
Wijewardene, A.
|
De Sousa, S.
| +9
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5
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Brancatella, A.
|
Cappellani, D.
|
Kaufmann, M.
| +8
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6
Approach to the Patient : Safety of Growth Hormone Replacement in Children and Adolescents
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Bamba, V.
|
Kanakatti Shankar, R.
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7
Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins : Insights Into the Pathogenesis of Methylation Defects
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Keidai, Y.
|
Iwasaki, Y.
|
Iwasaki, K.
| +3
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8
TUBB3 E410K Syndrome With Childhood-Onset Nonalcoholic Steatohepatitis
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2022
von
Mori, J.
|
Umemura, A.
|
Satake, W.
| +4
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9
Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2021
von
Kaygusuz, S.
|
Arslan Ates, E.
|
Vignola, M.
| +6
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10
Cushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2021
von
Tatsi, C.
|
Maria, A.
|
Malloy, C.
| +8
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Thema: Case Reports
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Zeitschrift: The Journal of clinical endocrinology and metabolism
Medienart
425
Aufsätze
261
E-Artikel
261
E-Ressourcen
164
Gedruckte Aufsätze
Zeitschriftentitel
The Journal of clinical endocrinology and metab...
Thema
Case Reports
422
Journal Article
246
Research Support, Non-U.S. Gov't
77
Research Support, N.I.H., Extramural
66
12629-01-5
66
Human Growth Hormone
47
Transcription Factors
37
DNA-Binding Proteins
30
Research Support, U.S. Gov't, P.H.S.
26
EC 2.7.10.1
23
Homeodomain Proteins
22
67763-96-6
22
9007-49-2
22
DNA
22
Insulin-Like Growth Factor I
21
EC 3.6.5.1
21
GTP-Binding Protein alpha Subunits, Gs
21
RNA, Messenger
20
EC 3.6.1.-
20
Nuclear Proteins
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Erscheinungszeitraum
339
2000-
12
1900-1999
Erscheinungsjahr(e)
Von:
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Sprache
425
Englisch
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