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21 .
Centers for Mendelian Genomics: A decade of facilitating gene discovery
저자
by
Samantha M. Baxter
;
Jennifer E. Posey
;
Nicole J. Lake
;
Nara Sobreira
;
Jessica X. Chong
, et al.
소스
Genet Med
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27 .
A noncoding RNA modulator potentiates phenylalanine metabolism in mice
저자
by
Yaohua Zhang
;
V. Reid Sutton
;
Youqiong Ye
;
Chunru Lin
;
Lan Liao
, et al.
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Science
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27 .
Two novel bi‐allelic
KDELR2
missense variants cause osteogenesis imperfecta with neurodevelopmental features
저자
by
Janice Yip
;
Shalini N. Jhangiani
;
Richard A. Gibbs
;
Henry Houlden
;
Jill V. Hunter
, et al.
소스
American Journal of Medical Genetics. Part a
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27 .
Back Cover, Volume 43, Issue 7
저자
by
Ariadne R. Lima
;
Barbara M. Ferreira
;
Chaofan Zhang
;
Angad Jolly
;
Haowei Du
, et al.
소스
Human Mutation
. 43
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27 .
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
저자
by
Shenzhao Lu
;
Mengqi Ma
;
Xiao Mao
;
Carlos A. Bacino
;
Joseph Jankovic
, et al.
소스
Am J Hum Genet
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27 .
Health‐related
quality of life in adults with osteogenesis imperfecta
저자
by
Dianne Nguyen
;
Salma Musaad
;
David Cuthbertson
;
Brady Slater
;
Laura L. Tosi
, et al.
소스
Clin Genet
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27 .
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
저자
by
Christopher M. Grochowski
;
Richard A. Gibbs
;
Jesper Eisfeldt
;
Anna Lindstrand
;
Juliana F. Mazzeu
, et al.
소스
Am J Med Genet A
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27 .
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
저자
by
Ariadne R. Lima
;
Barbara M. Ferreira
;
Chaofan Zhang
;
Angad Jolly
;
Haowei Du
, et al.
소스
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
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27 .
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
저자
by
Sarah H. Elsea
;
Charul Gijavanekar
;
Nishitha R. Pillai
;
Alison A. Bertuch
;
Fernando Scaglia
, et al.
소스
American Journal of Medical Genetics Part A
. 182:2781-2787
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27 .
Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form
저자
by
Chaofan Zhang
;
V. Reid Sutton
;
Juliana F. Mazzeu
;
Roman J. Shypailo
;
Claudia M.B. Carvalho
, et al.
소스
American Journal of Medical Genetics Part A
. 182:2632-2640
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