Results 261 to 270 of about 140,678 (408)

A Comparative Study of Karyotypes in the Treefrogs (Family Rhacophoridae) from Japan and Taiwan [PDF]

, 1977
Mitsuru Kuramoto
openalex   +1 more source

Spectral karyotyping [PDF]

Bioimaging, 1996
Yuval Garini, Merryn Macville, Stanislas du Manoir, Robert A Buckwald, Moshe Lavi, Nir Katzir, David Wine, Irit Bar‐Am, Evelin Schröck, Dario Cabib, Thomas Ried   +10 more
openaire   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

The Heterogeneity of 13q Deletions in Chronic Lymphocytic Leukemia: Diagnostic Challenges and Clinical Implications. [PDF]

Genes (Basel)
Xia C, Liu G, Liu J, Ronaghy A, Tadros S, Wang W, Fang H, Zhang S, Khoury JD, Tang Z.   +9 more
europepmc   +1 more source

Cytogenetic studies in North American minnows (Cyprinidae). VI. Karyotypes of thirteen species in the genus Notropis.

, 1979
John R. Gold, C. W. Whitlock, William J. Karel, James A. Barlow   +3 more
openalex   +2 more sources

First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases

Clinical Genetics, EarlyView.
This study shows increased diagnostic rates and clinical utility of trio‐Whole‐Genome Sequencing (WGS) as a first‐tier test for both critical and non‐critical patients with suspected genetic pediatric‐onset conditions. It also demonstrates the feasibility of implementing a genome‐first diagnostic approach into routine clinical practice in a public ...
Camilla Lucca, Erica Rosina, Lidia Pezzani, Daniela Piazzolla, Luigina Spaccini, Agnese Scatigno, Serena Gasperini, Laura Pezzoli, Anna Cereda, Donatella Milani, Elisa Cattaneo, Ugo Cavallari, Marco Frigeni, Daniela Marchetti, Cecilia Daolio, Laura Giordano, Matteo Bellini, Lucrezia Goisis, Chiara Mongodi, Davide Tonduti, Alba Pilotta, Giovanni Cazzaniga, Francesca Furlan, Maria Francesca Bedeschi, Giovanna Mangili, Ezio Bonanomi, Maria Iascone   +26 more
wiley   +1 more source

IUGR ambiguous genitalia in Iran: a case report. [PDF]

J Med Case Rep
Shirvani M, Alipour M, Mortajez AR.
europepmc   +1 more source

Cytogenetical studies on fishes. I. Karyotypes of four filefishes.

, 1979
Makoto Murofushi, Tosihide H. YOSIDA
openalex   +2 more sources

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome

Clinical Genetics, EarlyView.
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giorgia Gemma, Antonio Ammendola, Arteen Torabi‐Marashi, Eleonora di Venere, Gabriella Maria Squeo, Vincenzo Rallo, Maria Giuseppina Marini, Paolo Moi, Salvatore Savasta, Rosanna Weksberg, Giuseppe Merla, Andrea Angius   +16 more
wiley   +1 more source

A retrospective analysis of prenatal genetic results in fetal hydronephrosis. [PDF]

PLoS One
Jin K, Xu X, Qian Y, Zhang L, Hu M, Luo J.   +5 more
europepmc   +1 more source