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PubPharm (538)
1
Response to Letter to the Editor from Janot et al : « Single-Exon Deletions of ZNRF3 Exon 2 cause Congenital Adrenal Hypoplasia »
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2024
von
Amano, N.
|
Narumi, S.
|
Ishii, T.
| +1
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2
A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa
enthalten in:
Congenital anomalies
| 2024
von
Sato, T.
|
Ichihashi, Y.
|
Sugie, H.
| +2
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3
Letter to the Editor regarding "Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency : Implications for hormonal diagnosis"
enthalten in:
The Journal of steroid biochemistry and molecular biology
| 2024
von
Sato, T.
|
Nakano, S.
|
Honda, M.
| +3
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4
Multiple hepatoblastomas with positive β-catenin immunostaining as a potential indication for germline APC genetic testing : A case report
enthalten in:
Congenital anomalies
| 2024
von
Sato, T.
|
Takata, C.
|
Ito, J.
| +2
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5
Development of sexual dimorphism of skeletal muscles through the adrenal cortex, caused by androgen-induced global gene suppression
enthalten in:
Cell reports
| 2024
von
Takahashi, F.
|
Baba, T.
|
Christianto, A.
| +10
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6
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2024
von
Adachi, E.
|
Nakagawa, R.
|
Tsuji-Hosokawa, A.
| +14
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7
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2024
von
Amano, N.
|
Narumi, S.
|
Aizu, K.
| +6
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8
Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2024
von
Tanase-Nakao, K.
|
Iwahashi-Odano, M.
|
Sugisawa, C.
| +25
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9
DHX37 Variant is One of Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome / Partial Gonadal Dysgenesis without Müllerian Derivatives
enthalten in:
Hormone research in paediatrics
| 2024
von
Shimura, K.
|
Ichihashi, Y.
|
Nakano, S.
| +6
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10
RMRP-related short stature : A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Uchida, N.
|
Ishii, T.
|
Nishimura, G.
| +9
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9
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7
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Intracellular Signaling Peptides and Proteins
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mutation
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