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1 . Academic Journal
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
저자
by
Pena, Loren
;
Shashi, Vandana
;
Schoch, Kelly
;
Sullivan, Jennifer A.
;
Acosta, Maria T.
, et al.
소스
In
Biological Psychiatry
15 January 2020 87(2):100-112
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7 . Academic Journal
Expanding Genetic Counselor Roles: A Model for Global Research Development.
저자
by
Muraresku, Colleen C.
;
McCormick, Elizabeth M.
;
Rockart, Lydia
;
Blaine Crowley, T.
;
Asher, Stephanie
, et al.
소스
Genes
. Jul2024, Vol. 15 Issue 7, p867. 11p.
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7 . Academic Journal
Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV.
저자
by
Crane, Haley M.
;
Asher, Stephanie
;
Conway, Laura
;
Drivas, Theodore G.
;
Kallish, Staci
.
소스
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-13, 13p
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7 . Academic Journal
P853: Racial, ethnic, and socioeconomic disparities in general genetics evaluation and testing in the adult population*
저자
by
Gold, Jessica
;
Elkaim, Yehuda
;
Asher, Stephanie
;
Raper, Anna
;
Condit, Courtney
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P447: Comparing parental perspectives of raising children affected with inherited vs de novo Marfan syndrome
저자
by
Martinez, Breanna Lima
;
Kallish, Staci
;
Hartman, Tiffiney
;
Hennessy, Laura
;
Asher, Stephanie
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P404: Variants of uncertain significance in genes associated with inherited connective tissue disorders pose unique challenges
저자
by
Mazzella, Allison
;
Asher, Stephanie
;
Elysee, Isaac
;
Hennessy, Laura
;
Raper, Anna
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 .
Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
저자
by
Turin, Christie G.
;
Joeng, Kyu Sang
;
Kallish, Staci
;
Raper, Anna
;
Asher, Stephanie
, et al.
소스
In
Bone Reports
December 2021 15
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7 . Academic Journal
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling
저자
by
Johnson, Brett, V
;
Kumar, Raman
;
Oishi, Sabrina
;
Alexander, Suzy
;
Kasherman, Maria
, et al.
소스
BIOLOGICAL PSYCHIATRY
; JAN 15 2020, 87 2, p100-p112, 13p.
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7 .
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
저자
by
Johnson, Brett V
;
Kumar, Raman
;
Oishi, Sabrina
;
Alexander, Suzy
;
Kasherman, Maria
, et al.
소스
Biological psychiatry, vol 87, iss 2
Open Access (OpenAIRE)
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7 . Periodical
Heterozygous variant in WNT1gene in two brothers with early onset osteoporosis
저자
by
Turin, Christie G.
;
Joeng, Kyu Sang
;
Kallish, Staci
;
Raper, Anna
;
Asher, Stephanie
, et al.
소스
Bone Reports; December 2021, Vol. 15 Issue: 1
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