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1 . Academic Journal
P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing
저자
by
Guidugli, Lucia
;
Hammer, Monia
;
Cao, Bryant
;
Shen, Joseph
;
Rito, Daniel
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P339: Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing
저자
by
Lenberg, Jerica
;
Wigby, Kristen
;
Friedman, Jennifer
;
Tokita, Mari
;
Heinen, Alaina
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P584: Dual diagnosis of maple syrup urine disease 1B and 6q14.1 deletion in an individual with neurodevelopmental and metabolic phenotypes
저자
by
Wang, Xin (David)
;
Kirsten, Kelly
;
Wright, Meredith
;
Kim-McManus, Olivia
;
Ceulemans, Sophia
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Proton Beam Therapy for Patients With Medically Inoperable Stage I Non–Small-Cell Lung Cancer at the University of Tsukuba
저자
by
Nakayama, Hidetsugu
;
Sugahara, Shinji
;
Tokita, Mari
;
Satoh, Hiroaki
;
Tsuboi, Koji
, et al.
소스
In
International Journal of Radiation Oncology, Biology, Physics
2010 78(2):467-471
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7 . Academic Journal
Proton Beam Therapy for Large Hepatocellular Carcinoma
저자
by
Sugahara, Shinji
;
Oshiro, Yoshiko
;
Nakayama, Hidetsugu
;
Fukuda, Kuniaki
;
Mizumoto, Masashi
, et al.
소스
In
International Journal of Radiation Oncology, Biology, Physics
2010 76(2):460-466
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7 . Academic Journal
Toxicity of Three-Dimensional Conformal Radiotherapy for Accelerated Partial Breast Irradiation
저자
by
Hepel, Jaroslaw T.
;
Tokita, Mari
;
MacAusland, Stephanie G.
;
Evans, Suzanne B.
;
Hiatt, Jessica R.
, et al.
소스
In
International Journal of Radiation Oncology, Biology, Physics
2009 75(5):1290-1296
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7 . Academic Journal
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing.
저자
by
Wigby, Kristen
;
Hammer, Monia
;
Tokita, Mari
;
Patel, Priyanka
;
Jones, Marilyn C.
, et al.
소스
American Journal of Medical Genetics. Part A; Apr2023, Vol. 191 Issue 4, p930-940, 11p
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7 . Academic Journal
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.
저자
by
Kuehn, Hye Sun
;
Gloude, Nicholas J.
;
Dimmock, David
;
Tokita, Mari
;
Wright, Meredith
, et al.
소스
Journal of Clinical Immunology
. Aug2021, Vol. 41 Issue 6, p1241-1249. 9p.
Web of Science
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7 . Periodical
De novocoding variants in the AGO1gene cause a neurodevelopmental disorder with intellectual disability
저자
by
Schalk, Audrey
;
Cousin, Margot A
;
Dsouza, Nikita R
;
Challman, Thomas D
;
Wain, Karen E
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p965-975, 11p
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7 . Academic Journal
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
저자
by
Zhang, Jinglan
;
Lachance, Véronik
;
Schaffner, Adam
;
Li, Xianting
;
Fedick, Anastasia
, et al.
소스
PLoS Genetics
. 4/27/2016, Vol. 12 Issue 4, p1-21. 21p.
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