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1 . Academic Journal
De novo variants in DENND5B cause a neurodevelopmental disorder
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
;
Allworth, Aimee
, et al.
소스
In
The American Journal of Human Genetics
7 March 2024 111(3):529-543
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7 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
Differences in Survival of Clear Cell Metastatic Renal Cell Carcinoma According to Partial vs. Radical Cytoreductive Nephrectomy
저자
by
Cano Garcia, Cristina
;
Flammia, Rocco S.
;
Piccinelli, Mattia
;
Panunzio, Andrea
;
Tappero, Stefano
, et al.
소스
In
Clinical Genitourinary Cancer
February 2024 22(1):1-6
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7 . Academic Journal
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
, et al.
소스
In
The American Journal of Human Genetics
4 January 2024 111(1):96-118
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7 . Academic Journal
Unmarried status effect on stage at presentation and treatment patterns in primary urethral carcinoma patients
저자
by
Morra, Simone
;
Scheipner, Lukas
;
Baudo, Andrea
;
Jannello, Letizia Maria Ippolita
;
de Angelis, Mario
, et al.
소스
In
Urologic Oncology: Seminars and Original Investigations
January 2024
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7 . Academic Journal
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
저자
by
Burton, Barbara K.
;
Clague, Gillian E.
;
Harding, Cary O.
;
Kucuksayrac, Ece
;
Levy, Drew G.
, et al.
소스
In
Molecular Genetics and Metabolism
January 2024 141(1)
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7 . Academic Journal
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
저자
by
Campbell, Teresa
;
Slone, Jesse
;
Metzger, Hallie
;
Liu, Wensheng
;
Sacharow, Stephanie
, et al.
소스
In
Genetics in Medicine Open
2024 2
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7 . Academic Journal
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
저자
by
Goldstein, Jennifer
;
Thomas-Wilson, Amanda
;
Groopman, Emily
;
Aggarwal, Vimla
;
Bianconi, Simona
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
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7 . Academic Journal
Survival differences in non-seminoma testis cancer patients according to race/ethnicity
저자
by
Incesu, Reha-Baris
;
Barletta, Francesco
;
Tappero, Stefano
;
Piccinelli, Mattia Luca
;
Garcia, Cristina Cano
, et al.
소스
In
Cancer Epidemiology
April 2024 89
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7 . Academic Journal
Differences in other-cause mortality in metastatic renal cell carcinoma according to partial vs. radical nephrectomy and age: A propensity score matched study
저자
by
Siech, Carolin
;
Incesu, Reha-Baris
;
Morra, Simone
;
Scheipner, Lukas
;
Baudo, Andrea
, et al.
소스
In
Surgical Oncology
April 2024 53
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