E-LIB Suche - Ergebnisse für: Matsuo, Mari

1

Epidemiological investigation of spinal muscular atrophy in..:

Ito, Mayuri ; Yamauchi, Akemi ; Urano, Mari...
Brain and Development. 44 (2022) 1 - p. 2-16 , 2022

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

2

Factors Surrounding the Healthcare Transition From Pediatri..:

Ishizaki, Yuko ; Matsuo, Mari ; Saito, Kayoko.
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

3

Genetic abnormalities in a large cohort of Coffin–Siris syn..:

Sekiguchi, Futoshi ; Tsurusaki, Yoshinori ; Okamoto, Nobuhiko...
Journal of Human Genetics. 64 (2019) 12 - p. 1173-1186 , 2019

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

4

Long‐term natural history of an adult patient with distal 2..:

Matsuo, Mari ; Yamamoto, Toshiyuki ; Saito, Kayoko
Congenital Anomalies. 59 (2018) 3 - p. 102-103 , 2018

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

5

Effect of dietary fatty acid and micronutrient intake/energ..:

Miyoshi, Makoto ; Ueno, Manami ; Matsuo, Mari...
Nutrition. 39-40 (2017) - p. 67-70 , 2017

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

6

Mandibulofacial dysostosis with microcephaly: A case presen..:

Matsuo, Mari ; Yamauchi, Akemi ; Ito, Yasushi...
Brain and Development. 39 (2017) 2 - p. 177-181 , 2017

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

7

Genetic Counseling for Couples Seeking Noninvasive Prenatal..:

Watanabe, Motoko ; Matsuo, Mari ; Ogawa, Masaki...
Journal of Genetic Counseling. 26 (2016) 3 - p. 628-639 , 2016

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

8

Microarray analysis of 50 patients reveals the critical chr..:

Shimada, Shino ; Shimojima, Keiko ; Okamoto, Nobuhiko...
Brain and Development. 37 (2015) 5 - p. 515-526 , 2015

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

9

The spectrum of ZEB2 mutations causing the Mowat–Wilson syn..:

Yamada, Yasukazu ; Nomura, Noriko ; Yamada, Kenichiro...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 1899-1908 , 2014

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

10

Overlapping microdeletions involving 15q22.2 narrow the cri..:

Yamamoto, Toshiyuki ; Mencarelli, Maria Antonietta ; Di Marco, Chiara...
European Journal of Medical Genetics. 57 (2014) 4 - p. 163-168 , 2014

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

11

A sibling case of Wolfram syndrome with a novel mutation Y6..:

Iwasaki, Naoko ; Fukawa, Kaori ; Matsuo, Mari...
Diabetology International. 5 (2013) 2 - p. 148-153 , 2013

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

12

MLL2 and KDM6A mutations in patients with Kabuki syndrome:

Miyake, Noriko ; Koshimizu, Eriko ; Okamoto, Nobuhiko...
American Journal of Medical Genetics Part A. 161 (2013) 9 - p. 2234-2243 , 2013

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

13

De novo triplication of 11q12.3 in a patient with developme..:

Yamamoto, Toshiyuki ; Matsuo, Mari ; Shimada, Shino...
Molecular Cytogenetics. 6 (2013) 1 - p. 15 , 2013

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

14

Genetic deficiency of tartrate-resistant acid phosphatase a..:

Lausch, Ekkehart ; Janecke, Andreas ; Bros, Matthias...
Nature Genetics. 43 (2011) 2 - p. 132-137 , 2011

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

15

Clinical manifestations of the deletion of Down syndrome cr..:

Yamamoto, Toshiyuki ; Shimojima, Keiko ; Nishizawa, Tsutomu...
American Journal of Medical Genetics Part A. 155 (2010) 1 - p. 113-119 , 2010

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