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Volume 60; Issue 5
Main
Journal of Human Genetics
Volume 60; Issue 5
Journal of Human Genetics
Volume 60; Issue 5
1
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
Fukai, Ryoko
,
Hiraki, Yoko
,
Yofune, Hiroko
,
Tsurusaki, Yoshinori
,
Nakashima, Mitsuko
,
Saitsu, Hirotomo
,
Tanaka, Fumiaki
,
Miyake, Noriko
,
Matsumoto, Naomichi
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 433 KB
Your tags:
english, 2015
2
A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing
Kubo, Yuji
,
Nishio, Hisahide
,
Saito, Kayoko
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2015
3
Detection of APC mosaicism by next-generation sequencing in an FAP patient
Yamaguchi, Kiyoshi
,
Komura, Mitsuhiro
,
Yamaguchi, Rui
,
Imoto, Seiya
,
Shimizu, Eigo
,
Kasuya, Shinichi
,
Shibuya, Tetsuo
,
Hatakeyama, Seira
,
Takahashi, Norihiko
,
Ikenoue, Tsuneo
,
Hata, Keisuke
,
Tsurita,
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 699 KB
Your tags:
english, 2015
4
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS
Horibata, Katsuyoshi
,
Kono, Sayaka
,
Ishigami, Chie
,
Zhang, Xue
,
Aizawa, Madoka
,
Kako, Yuko
,
Ishii, Takuma
,
Kosaki, Rika
,
Saijo, Masafumi
,
Tanaka, Kiyoji
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 1.08 MB
Your tags:
english, 2015
5
Incidence and clinical importance of BCR-ABL1 mutations in Iranian patients with chronic myeloid leukemia on imatinib
Rostami, Golale
,
Hamid, Mohammad
,
Yaran, Majid
,
Khani, Mohsen
,
Karimipoor, Morteza
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 507 KB
Your tags:
english, 2015
6
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
Baudhuin, Linnea M
,
Kotzer, Katrina E
,
Lagerstedt, Susan A
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 655 KB
Your tags:
english, 2015
7
The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients
Tavira, Beatriz
,
Gómez, Juan
,
Díaz-Corte, Carmen
,
Coronel, Diego
,
Lopez-Larrea, Carlos
,
Suarez, Beatriz
,
Coto, Eliecer
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 253 KB
Your tags:
english, 2015
8
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
Ankleshwaria, Chitra
,
Mistri, Mehul
,
Bavdekar, Ashish
,
Muranjan, Mamta
,
Dave, Usha
,
Tamhankar, Parag
,
Khanna, Varun
,
Jasinge, Eresha
,
Nampoothiri, Sheela
,
Edayankara Kadangot, Suresh
,
Sheth, Frenny
,
G
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 63 KB
Your tags:
english, 2015
9
Systematic review and meta-analysis of Japanese familial Alzheimer’s disease and FTDP-17
Kasuga, Kensaku
,
Kikuchi, Masataka
,
Tokutake, Takayoshi
,
Nakaya, Akihiro
,
Tezuka, Toshiyuki
,
Tsukie, Tamao
,
Hara, Norikazu
,
Miyashita, Akinori
,
Kuwano, Ryozo
,
Ikeuchi, Takeshi
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 405 KB
Your tags:
english, 2015
10
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period
Valduga, Mylène
,
Philippe, Christophe
,
Lambert, Laetitia
,
Bach-Segura, Pascale
,
Schmitt, Emmanuelle
,
Masutti, Jean Pierre
,
François, Bénédicte
,
Pinaud, Patrick
,
Vibert, Mireille
,
Jonveaux, Philippe
Journal:
Journal of Human Genetics
Year:
2015
Language:
english
File:
PDF, 997 KB
Your tags:
english, 2015
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