E-LIB Suche - Ergebnisse für: Morimoto, Marie

1

Loss of the endoplasmic reticulum protein Tmem208 affects c..:

Dutta, Debdeep ; Kanca, Oguz ; Shridharan, Rishi V....
Proceedings of the National Academy of Sciences. 121 (2024) 9 - p. , 2024

Link: https://doi.org/10.1073/..

2

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

3

cDNA sequencing increases the molecular diagnostic yield in..:

Kuptanon, Chulaluk ; Morimoto, Marie ; Nicoli, Elena-Raluca...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Chediak-Higashi syndrome: A review of the past, present, an..:

Sharma, Prashant ; Nicoli, Elena-Raluca ; Serra-Vinardell, Jenny...
Drug Discovery Today: Disease Models. 31 (2020) - p. 31-36 , 2020

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

5

Publisher Correction: Spermine synthase deficiency causes l..:

Li, Chong ; Brazill, Jennifer M. ; Liu, Sha...
Nature Communications. 9 (2018) 1 - p. , 2018

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

6

Spermine synthase deficiency causes lysosomal dysfunction a..:

Li, Chong ; Brazill, Jennifer M. ; Liu, Sha...
Nature Communications. 8 (2017) 1 - p. , 2017

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

7

Complex translocation disrupting TCF4 and altering TCF4 iso..:

Maduro, Valerie ; Pusey, Barbara N. ; Cherukuri, Praveen F....
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

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

8

Chromatin changes inSMARCAL1deficiency: A hypothesis for th..:

Morimoto, Marie ; Choi, Kunho ; Boerkoel, Cornelius F..
Nucleus. 7 (2016) 6 - p. 560-571 , 2016

Link: https://doi.org/10.1080/..

9

Increased Wnt and Notch signaling: a clue to the renal dise..:

Morimoto, Marie ; Myung, Clara ; Beirnes, Kimberly...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

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

10

Lack of IL7Rα expression in T cells is a hallmark of T-cell..:

Sanyal, Mrinmoy ; Morimoto, Marie ; Baradaran-Heravi, Alireza...
Clinical Immunology. 161 (2015) 2 - p. 355-365 , 2015

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

11

The Role of Nuclear Bodies in Gene Expression and Disease:

Morimoto, Marie ; Boerkoel, Cornelius
Biology. 2 (2013) 3 - p. 976-1033 , 2013

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

12

Penetrance of biallelic SMARCAL1 mutations is associated wi..:

Baradaran-Heravi, Alireza ; Cho, Kyoung Sang ; Tolhuis, Bas...
Human Molecular Genetics. 21 (2012) 11 - p. 2572-2587 , 2012

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

13

Reduced elastogenesis: a clue to the arteriosclerosis and e..:

Morimoto, Marie ; Yu, Zhongxin ; Stenzel, Peter...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. , 2012

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

14

Expression profile of NSDHL in human peripheral tissues:

Morimoto, Marie ; du Souich, Christèle ; Trinh, Joanne...
Journal of Molecular Histology. 43 (2011) 1 - p. 95-106 , 2011

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

15

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918471/. , 2023

Link: http://www.ncbi.nlm.nih...