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1.
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
BMC Pediatr
; 24(1): 308, 2024 May 06.
Article
in English
| MEDLINE | ID: mdl-38711055
2.
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
J Hum Genet
; 68(5): 363-367, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36631501
3.
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Clin Genet
; 103(4): 383-391, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36645289
4.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Genomics
; 114(5): 110468, 2022 09.
Article
in English
| MEDLINE | ID: mdl-36041635
5.
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.
J Hum Genet
; 67(3): 157-164, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34719681
6.
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
J Hum Genet
; 66(5): 499-507, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33144663
7.
Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.
Intern Med
; 63(7): 1005-1008, 2024 Apr 01.
Article
in English
| MEDLINE | ID: mdl-37558483
8.
Cervical Cerclage to Prevent Intrauterine Balloon Prolapse.
Surg J (N Y)
; 9(1): e36-e38, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36742157
9.
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Life Sci Alliance
; 6(8)2023 08.
Article
in English
| MEDLINE | ID: mdl-37286232
10.
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Sci Rep
; 13(1): 9789, 2023 06 16.
Article
in English
| MEDLINE | ID: mdl-37328543
11.
The retrospective study for effectiveness of cervical cerclage in preventing recurrent preterm birth.
Taiwan J Obstet Gynecol
; 61(1): 63-69, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-35181048
12.
Retrospective study of the recurrence risk of preterm birth in Japan.
J Matern Fetal Neonatal Med
; 35(3): 515-519, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-32068466
13.
Distal 2q duplication in a patient with intellectual disability.
Hum Genome Var
; 9(1): 39, 2022 Nov 10.
Article
in English
| MEDLINE | ID: mdl-36357380
14.
Laparoscopic Removal of Modified Vertical Uterine Compression Sutures due to Postoperative Focal Pain.
Surg J (N Y)
; 6(2): e67-e70, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-32258412
15.
"Should we perform cerclage as late as possible and wait until the cervix dilated >10 mm as physical examination-indicated cerclage for subjects in the article?"
Taiwan J Obstet Gynecol
; 61(4): 732, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35779935
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