Results 211 to 220 of about 18,361 (285)

Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients. [PDF]

Hered Cancer Clin Pract
Naeemi H, Muhammad N, Loya A, Yusuf MA, Rashid MU.   +4 more
europepmc   +1 more source

Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy. [PDF]

Neurol Genet
Rimoldi M, Magri F, Meneri M, Gagliardi D, Ada Sansone V, Albamonte E, Ottoboni L, Comi GP, Mercuri E, Tiziano FD, Ronchi D, Corti S.   +11 more
europepmc   +1 more source

A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region. [PDF]

Hum Genome Var
Nakahara Sakamoto E, Shimada S, Yamaguchi T, Ishida T, Imai K, Eguchi H, Okazaki Y, Arai M.   +7 more
europepmc   +1 more source

Bestimmung von Kopienzahlveränderungen und Methylierungen der Promotorregion von Tumorsuppressorgenen bei Hirntumoren verschiedener Entitäten mittels MS-MLPA

, 2008
Thomas med. Hoffmann
openalex   +1 more source

The use of whole genome sequencing to study young patients with 100+ adenomas of the colon. [PDF]

Front Oncol
Tsukanov AS, Achkasov SI, Loginova AN, Shubin VP, Pikunov DY, Chekanov NN, Salomatina AS, Severinov KV.   +7 more
europepmc   +1 more source

Treatment challenges in glioblastoma: a case report. [PDF]

Front Oncol
Roda D, Oliveira F, Veiga P, Santos L, Abreu P, Nascimento A, Caramelo F, Melo JB, Carreira IM, Ribeiro IP.   +9 more
europepmc   +1 more source

Pesquisa de síndromes de microdeleção em pacientes com deficiência intelectual por meio da técnica de MLPA - Amplificação de Múltiplas Sondas Dependentes de Ligação

, 2012
Adriana Rosolia Costa Sabbag
openalex   +1 more source

Identificação de deleções/duplicações no gene gba1 utilizando o método mlpa em pacientes brasileiros com Doença de Gaucher

, 2017
Suélen Porto Basgalupp, Marina Siebert, Filippo Pinto e Vairo, Ida Vanessa Döederlein Schwartz   +3 more
openalex   +1 more source

Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations. [PDF]

Ital J Pediatr
Chu Y, Zhang C, Pan Z, Peng J.
europepmc   +1 more source