21 - 40 of about 52
Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders , Ebiki M, Okazaki T, Kai M, Adachi K, Nanba E , Yonago Acta Med , vol.62 (3) (p.244 - 252) , 2019.09 , There is Review , The Multiple Authorship , English
A new heterozygous compound mutation in the CTSA gene in galactosialidosis , Nakajima H, Ueno M, Adachi K, Nanba E, Narita A, Tsukimoto J, Itoh K, Kawakami A , Hum Genome Var , vol.6 (p.22) , 2019.04 , There is Review , The Multiple Authorship , English
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation , Okazaki T, Saito Y, Sugita K, Nosaka K, Ohno K, Hiraoka Y, Kasagi N, Ebiki M, Narai S, Kawashima Y, Takano S, Kai M, Adachi K, Yamamoto O, Nanba E, Maegaki Y , Yonago Acta Med , vol.62 (1) (p.159 - 162) , 2019.03 , There is Review , The Multiple Authorship , English
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations , Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y , Clin Genet , vol.94 (3-4) (p.391 - 392) , 2018.10 , There is Review , The Multiple Authorship , English
Acute localized exanthematous pustulosis caused by a herbal medicine, dai-kenchu-to , Tsutsumi R, Yoshida Y, Adachi K, Nanba E, Yamamoto O , Contact Dermatitis , vol.79 (4) (p.257 - 259) , 2018.10 , There is Review , The Multiple Authorship , English
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report , Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, Noguchi A, Takahashi T, Maekawa M, Eto Y, Ogawa M, Murata M, Takahashi Y , BMC Neurol , vol.18 (1) (p.117) , 2018.08 , There is Review , The Multiple Authorship , English
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report , Hosoba S, Kito K, Teramoto Y, Adachi K, Nakanishi R, Asai A, Iwasa M, Nishimura R, Moritani S, Kawahara M, Minamiguchi H, Nanba E, Kushima R, Andoh A , Medicine (Baltimore) , vol.97 (27) (p.e11361 - ) , 2018.07 , There is Review , The Multiple Authorship , English
Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis , Kurata H, Shirai K, Saito Y, Okazaki T, Ohno K, Oguri M, Adachi K, Nanba E, Maegaki Y , Brain Dev , vol.40 (1) (p.36 - 41) , 2018.01 , There is Review , The Multiple Authorship , English
Miglustat therapy in a case of early-infantile Niemann-Pick type C , Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H , Brain Dev , vol.39 (10) (p.886 - 890) , 2017.11 , There is Review , The Multiple Authorship , English
Increased IRS2 mRNA Expression in SGA Neonates: PCR Analysis of Insulin/IGF Signaling in Cord Blood , Fujimoto M, Sonoyama YK, Fukushima K, Imamoto A, Miyahara F, Miyahara N, Nishimura R, Yamada Y, Miura M, Adachi K, Nanba E, Hanaki K, Kanzaki S , J Endocr Soc , vol.1 (12) (p.1408 - 1416) , 2017.10 , There is Review , The Multiple Authorship , English
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1 , Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y , Epileptic Disord , vol.19 (3) (p.339 - 344) , 2017.09 , There is Review , The Multiple Authorship , English
Nagashima-type palmoplantar keratosis with melanoma: absence of epidermal Langerhans cells in hyperkeratotic skin , Tsutsumi R, Yoshida Y, Yamada N, Adachi K, Nanba E, Yamamoto O , Eur J Dermatol , vol.27 (2) (p.210 - 212) , 2017.04 , There is Review , The Multiple Authorship , English
A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis , Izumi H, Kurai J, Kodani M, Watanabe M, Yamamoto A, Nanba E, Adachi K, Igishi T, Shimizu E , Hum Genome Var , 2017.01 , There is Review , The Multiple Authorship , English
Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis , Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y , Brain Dev , 2017.01 , There is Review , The Multiple Authorship , English
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta , Shibazaki T, Hirabayashi K, Saito S, Shigemura T, Nakazawa Y, Sakashita K, Takagi M, Shiohara M, Adachi K, Nanba E, Sakai N, Koike K , Am J Med Genet A , vol.170 (5) (p.1278 - 1282) , 2016.05 , There is Review , The Multiple Authorship , English
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1 , Yoshida Y, Doi R, Adachi K, Nanba E, Kodani I, Ryoke K , Hum Genome Var , vol.3 (p.16005) , 2016.03 , There is Review , The Multiple Authorship , English
Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing , Okazaki T, Murata M, Kai M, Adachi K, Nakagawa N, Kasagi N, Matsumura W, Maegaki Y, Nanba E , Yonago Acta Med , 2016.01 , There is Review , The Multiple Authorship , English
Oxytocin for Male Subjects with Autism Spectrum Disorder and Comorbid Intellectual Disabilities: A Randomized Pilot Study , Munesue T, Nakamura H, Kikuchi M, Miura Y, Takeuchi N, Anme T, Nanba E, Adachi K, Tsubouchi K, Sai Y, Miyamoto K, Horike S, Yokoyama S, Nakatani H, Niida Y, Kosaka H, Minabe Y, Higashida H , Front Psychiatry , vol.7 (p.2) , 2016.01 , There is Review , The Multiple Authorship , English
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature , Fujimoto M, Kawashima Sonoyama Y, Hamajima N, Hamajima T, Kumura Y, Miyahara N, Nishimura R, Adachi K, Nanba E, Hanaki K, Kanzaki S , Clin Endocrinol (Oxf) , vol.83 (6) (p.834 - 841) , 2015 , There is Review , The Multiple Authorship , English
Expansion of genetic testing in the division of functional genomics, research center for bioscience and technology, tottori university from 2000 to 2013 , Adachi K , Yonago Acta Med , vol.57 (1) (p.37 - 43) , 2014.03 , There is Review , The Simple Work , English