E-LIB Suche - Ergebnisse für: Yamada, Mamiko

1

A novel missense variant of FGD1 disruptscritical cysteine ..:

Takahashi, Ikuko ; Noguchi, Atsuko ; Kondo, Daiki...
Clinical Pediatric Endocrinology. 33 (2024) 1 - p. 39-42 , 2024

Link: https://doi.org/10.1297/..

2

Truncating variants of the sterol recognition region of SHH..:

Yamada, Mamiko ; Mizuno, Seiji ; Inaba, Mie...
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024

Link: https://doi.org/10.1002/..

3

Biallelic loss-of-function variants in the centriolar prote..:

Suzuki, Hisato ; Muramatsu, Yukako ; Miya, Fuyuki...
European Journal of Medical Genetics. 70 (2024) - p. 104955 , 2024

Link: https://doi.org/10.1016/..

4

SALL4 deletion and kidney and cardiac defects associated wi..:

Watanabe, Daisuke ; Nakato, Daisuke ; Yamada, Mamiko...
Pediatric Nephrology. 39 (2024) 8 - p. 2347-2349 , 2024

Link: https://doi.org/10.1007/..

5

Successful skipping of abnormal pseudoexon by antisense oli..:

Yamada, Mamiko ; Maeta, Kazuhiro ; Suzuki, Hisato...
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

6

Identification of a novel splice‐site WWOX variant with pat..:

Nishino, Megumi ; Tanaka, Mai ; Imagawa, Kazuo...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

Link: https://doi.org/10.1002/..

7

BMP2 is a potential causative gene for isolated dextrocardi..:

Yogi, Analia ; Iemura, Ryosei ; Nakatani, Hisae...
European Journal of Medical Genetics. 66 (2023) 9 - p. 104820 , 2023

Link: https://doi.org/10.1016/..

8

Oculofaciocardiodental syndrome caused by a novel BCOR vari..:

Yamashita, Tomoyo ; Hotta, Junko ; Jogu, Yukiko...
Human Genome Variation. 10 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

9

Familial café‐au‐lait macules associated with in‐frame dele..:

Nakato, Daisuke ; Yamada, Mamiko ; Suzuki, Hisato..
Congenital Anomalies. 63 (2023) 2 - p. 54-55 , 2023

Link: https://doi.org/10.1111/..

10

Café-au-lait Spots and Cleft Palate: Not a Chance Associati..:

Yamada, Mamiko ; Tanito, Katsumi ; Suzuki, Hisato...
The Cleft Palate Craniofacial Journal. , 2023

Link: https://doi.org/10.1177/..

11

Heterozygous loss-of-function DHX9 variants are associated ..:

Yamada, Mamiko ; Nitta, Yohei ; Uehara, Tomoko...
European Journal of Medical Genetics. 66 (2023) 8 - p. 104804 , 2023

Link: https://doi.org/10.1016/..

12

Janus kinase inhibitors ameliorate clinical symptoms in pat..:

Kaneko, Shuya ; Sakura, Fumiaki ; Tanita, Kay...
Immunotherapy Advances. 3 (2023) 1 - p. , 2023

Link: https://doi.org/10.1093/..

13

Parkinsonism in spinocerebellar ataxia with axonal neuropat..:

Ouchi, Shogo ; Ishii, Kazuhiro ; Kosaki, Kenjiro...
BMC Neurology. 23 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

14

Rhegmatogenous Retinal Detachment in Musculocontractural Eh..:

Yoshikawa, Yuji ; Koto, Takashi ; Ishida, Tomoka...
Journal of Clinical Medicine. 12 (2023) 5 - p. 1728 , 2023

Link: https://doi.org/10.3390/..

15

Diagnosis of Prader-Willi syndrome and Angelman syndrome by..:

Yamada, Mamiko ; Okuno, Hironobu ; Okamoto, Nobuhiko...
European Journal of Medical Genetics. 66 (2023) 2 - p. 104690 , 2023

Link: https://doi.org/10.1016/..