Results 191 to 200 of about 261,179 (217)

It Takes 2 (Repeats) to Lose TANGO2. [PDF]

Neurol Genet
Brutman JN, Hendricks NE, Valdmanis PN.
europepmc   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Ganglioneuroblastoma associated with neurofibromatosis type 1: a case report with a systematic review. [PDF]

Front Oncol
Zhang Q, Su S, Geng G, Bai Y, Hu W, Zhang W, Zhang H, Wang G.   +7 more
europepmc   +1 more source

Case Report: A <i>de novo NSD2</i> multiple exon deletion variant in a child with Rauch-Steindl syndrome. [PDF]

Front Pediatr
Li C, Xie M, Peng Q, Lu X, Zhong B.
europepmc   +1 more source

Reciprocal regulation of fibroblast-macrophage equilibrium governs skin integrity. [PDF]

Nat Immunol
Vollmers AC, Wu SZ, Altieri A, McCartney EE, Bender H, Davidson CD, Lee WP, Zhang J, Hu C, Jeet S, Hall B, Irizarry-Caro RA, Guarnieri A, Santosa EK, Preston J, Uttarwar S, Vander Heiden JA, Chung Y, Ortiz W, Long M, Asuncion R, Yang YA, Jiang JX, Modrusan Z, Chintalacharuvu S, Moussion C, Krishnamurty AT, Fu W, Müller S, Buechler MB, Turley SJ.   +30 more
europepmc   +1 more source

Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders. [PDF]

J Clin Invest
Hu K, Yang R, Qiu J, Feng X, LaPre KJ, Tanouye J, Yang Y, Zhang X.   +7 more
europepmc   +1 more source

Cone Opsins and Inherited Retinal Disease. [PDF]

Cells
Tang M, Park PS.
europepmc   +1 more source

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Identification and analysis of micro‐exons in AP2/ERF and MADS gene families

FEBS Open Bio, 2020
Ling-Ling Chen, Qi Song, Huan Li
exaly  

Evolutionary Story of Mammalian-specific Amelogenin Exons 4, “4b”, 8, and 9

Journal of Dental Research, 2012
Sidney Delgado, P K Denbesten
exaly  

Comparative evolutionary rates of introns and exons in murine rodents

Journal of Molecular Evolution, 1997
Hughes Austin L, M Yeager, A L Hughes
exaly