Results 201 to 210 of about 133,000 (265)

Male Goltz Syndrome due to Postzygotic <i>PORCN</i> Mosaicism: A Case Report. [PDF]

Case Rep Dermatol Med
Tran VAD, Eldoadoa M, Tran TB, Uyen Pham NT, Chau LD, Makram AM, Huy NT, Phan Nguyen TT, Elsheikh R.   +8 more
europepmc   +1 more source

A novel truncating FBN1 variant in a family with Marfan syndrome. [PDF]

Hum Genome Var
Ito Y, Suzumura H, Tanaka Y, Imataka G, Hayashi S, Kawarai Y, Susaka H, Muramatsu M, Yuasa H, Soeda W, Ito S, Kogai T, Yamada T, Naruse K.   +13 more
europepmc   +1 more source

An antisense antidote to oncogenic poison exons. [PDF]

Genes Dev
Arvola RM, Singh G.
europepmc   +1 more source

NMD takes two PIN domains to tango. [PDF]

RNA
Mühlemann O, Karousis ED.
europepmc   +1 more source

Reprogramming translation for rare disease therapy: challenges posed by large genes. [PDF]

Signal Transduct Target Ther
Pattnaik BR, Sahel JA.
europepmc   +1 more source

Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review. [PDF]

Hum Genome Var
Bazmi H, Jabbarpour N, Asghari AA, Bonaydi M, Motamedi A, Barzegar M.   +5 more
europepmc   +1 more source

SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia. [PDF]

Anim Genet
Kammermann L, Mansell JK, McMahill BG, Affolter VK, Jagannathan V, Leeb T.   +5 more
europepmc   +1 more source

Hereditary Hemolytic Spherocytosis in the Active-Duty Population: A Unique Case. [PDF]

Cureus
Ahn D, Berenberg J.
europepmc   +1 more source

Uncovering the genomic landscape of Mycobacterium bovis in Wales. [PDF]

Sci Rep
Healey AJE, Williams CL, Dimonaco NJ, Galloway T, Ellis RJ, Palkopoulou E, Strong J, Gibson AJ, Hewinson RG, Friedersdorff JCA.   +9 more
europepmc   +1 more source