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1.
SHOX far-downstream deletion in a patient with nonsyndromic short stature.
Am J Med Genet A
; 188(7): 2173-2177, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35319168
2.
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Endocr J
; 64(10): 947-954, 2017 Oct 28.
Article
in English
| MEDLINE | ID: mdl-28768959
3.
Targeted use of prednisolone with the second IVIG dose for refractory Kawasaki disease.
Pediatr Int
; 59(4): 397-403, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27743415
4.
Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.
Cytogenet Genome Res
; 150(2): 86-92, 2016.
Article
in English
| MEDLINE | ID: mdl-28099951
5.
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
J Hum Genet
; 61(7): 585-91, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-26984564
6.
Meningitis and septicemia caused by nontypeable Haemophilus influenzae in a previously healthy 2-year-old girl.
J Infect Chemother
; 17(4): 559-62, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21286774
7.
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
J Pediatr Endocrinol Metab
; 33(10): 1335-1339, 2020 Aug 31.
Article
in English
| MEDLINE | ID: mdl-32866124
8.
A case report and literature review of monoallelic mutation of GHR.
J Pediatr Endocrinol Metab
; 32(4): 415-419, 2019 Apr 24.
Article
in English
| MEDLINE | ID: mdl-30893054
9.
Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 104(5): 1866-1870, 2019 05 01.
Article
in English
| MEDLINE | ID: mdl-30476142
10.
Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.
Horm Res Paediatr
; 84(5): 305-10, 2015.
Article
in English
| MEDLINE | ID: mdl-26352728
11.
A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone.
Clin Pediatr Endocrinol
; 25(1): 19-22, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26865751
12.
Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.
Am J Med Genet
; 107(1): 78-80, 2002 Jan 01.
Article
in English
| MEDLINE | ID: mdl-11807876
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