Results 171 to 180 of about 18,361 (285)

Molecular Characterization of Three Novel Large Deletions Causing α⁰-Thalassemia. [PDF]

Int J Mol Sci
Ferrer-Benito S, Ricard Andrés MP, Murúzabal MJ, Nieto JM, González FA, Ortega-Montero B, Villegas A, Benavente C, Ropero P.   +8 more
europepmc   +1 more source

A Serologic Mycobacteria Leprae Gelatin Particle Agglutination(MLPA) in the Diagnosis of Leprosy: Comparison with Conventional Enzyme-Linked ImmunoAssay and Bacterial Index.

, 1996
Abraham T. Agdamag, Masumi Endoh, Kunio Kawatsu, Shinzo Izumi   +3 more
openalex   +2 more sources

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. [PDF]

Case Rep Endocrinol
Fylaktou I, Tsinopoulou VR, Sertedaki A, Kanaka-Gantenbein C, Galli-Tsinopoulou A.   +4 more
europepmc   +1 more source

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report. [PDF]

Clin Case Rep
Jiang W, Ji T, Wu Q, Xu Z, Xia X.
europepmc   +1 more source

Characterization of copy number variation and methylation status of the FMR1 and AFF2 genes through MS-MLPA in males with X-linked intellectual disability

, 2015
Thaís Fernandez Gonçalves
openalex   +1 more source

When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies. [PDF]

Cureus
Dasgupta S, Datta D, Pal S, Ghosh K, Sett S.   +4 more
europepmc   +1 more source

Characterization of Chronic Lymphocytic Leukemia by aCGH/MLPA

, 2018
Tese de mestrado em Biologia Molecular e Genética, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, em ...
openaire   +1 more source

Identification of maternal ^Gγ(^Aγδβ)⁰ thalassemia through retrospective reanalysis of prenatal cfDNA sequencing data. [PDF]

Ann Med
Zhu X, Hu L, Pei Y, Ran J, Wen L, Zhong J, Zhu Y, Zeng K, Wei F, Liu W.   +9 more
europepmc   +1 more source

Identification of Exonic Copy Number Variations in Dystrophin Gene Using Mlpa / Identificarea Variaţiilor Numărului de Copii în Gena Distrofinei Folosind Metoda Mlpa

, 2014
Rusu Cristina, Adriana Sireteanu, Butnariu Lăcrămioara, Pânzaru Monica, Braha Elena, Doina Mihăilă, Roxana Popescu   +6 more
openalex   +1 more source

Partial Deletion of the <i>NR5A1 (SF1)</i> Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development [PDF]

, 2011
Michela Barbaro, Martine Cools, Leendert H. J. Looijenga, S L S Drop, Anna Wedell   +4 more
openalex   +1 more source