Results 151 to 160 of about 27,023 (191)

Genetic and clinical features of microcephaly in a prenatal cohort. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Liu H, Yin A, Jiang X, Tang L, Liu S, Qin X, Zhong M, Huang C, Jia B.   +9 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies. [PDF]

Front Med (Lausanne)
Yin J, Zhang X, Wang Q, Cao Q, Ou H, Zhao Z, Xu S, Wang J, Xia L, Zhang B, Xiao X, Luo T, Wang X.   +12 more
europepmc   +1 more source

Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses. [PDF]

Arch Med Sci
Sun S, Liu C, Lan X, Tang Y.
europepmc   +1 more source

Chronic Myeloid Leukemia Harboring a Novel Four-Way Variant Translocation t(7;22;9;15)(p15;q11.2;q34.1;q22) With Cryptic Double Philadelphia Chromosomes. [PDF]

Cureus
Kamigaki S, Ito M, Nakano S, Takagi N.
europepmc   +1 more source

Prognostic significance of caspase 8 associated protein 2 (CASP8AP2) in childhood b cell acute lymphoblastic Leukemia. [PDF]

Discov Oncol
Arafah O, Ashraf M, Abd Elsalam AM, Elfishawi S, Hammad M.   +4 more
europepmc   +1 more source

Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies. [PDF]

Diagnostics (Basel)
Rodriguez-Revenga L, Ardiles-Ruesjas V, Borrell A.   +2 more
europepmc   +1 more source

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities. [PDF]

Front Genet
Guo Y, Xin X, Zhou L, Huang J.
europepmc   +1 more source

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Karyotyping

Current Protocols in Human Genetics, 1998
AbstractRelevant portions of the new International System for Human Cytogenetic Nomenclature (ISCN 1995) have been reproduced in this appendix (with permission from Karger, the original publisher). The new rules supersede all previous rules and include guidelines for cancer cytogenetics as well as new recommendations for nomenclature when in situ ...
R R, Schreck, C, Distèche
openaire   +2 more sources