Works by Behunova, Jana

Results: 10

Stone Babies: A Pictorial Essay With Insights From 25 Museal Lithopaedions.

Published in:

Birth Defects Research, 2024, v. 116, n. 11, p. 1, doi. 10.1002/bdr2.2410

By:

Boer, Lucas L.;
Wasserscheid, Andreas;
Winter, Eduard;
de Rooy, Laurens;
Schepens‐Franke, Annelieke N.;
Magno, Giovanni;
Cusan, Alice;
Rehder, Helga;
Behunova, Jana;
Scharrer, Anke;
Lobé, Nick;
Peloschek, Philipp;
Oostra, Roelof‐Jan;
Kircher, Susanne G.

Publication type:

Article

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern.

Published in:

Birth Defects Research, 2020, v. 112, n. 2, p. 175, doi. 10.1002/bdr2.1620

By:

Schoner, Katharina;
Witsch‐Baumgartner, Martina;
Behunova, Jana;
Petrovic, Robert;
Bald, Rainer;
Kircher, Susanne G.;
Ramaswamy, Annette;
Kluge, Britta;
Meyer‐Wittkopf, Matthias;
Schmitz, Ralf;
Fritz, Barbara;
Zschocke, Johannes;
Laccone, Franco;
Rehder, Helga

Publication type:

Article

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1301, doi. 10.1002/ajmg.a.63153

By:

Boer, Lucas L.;
Kircher, Susanne Gerit;
Rehder, Helga;
Behunova, Jana;
Winter, Eduard;
Ringl, Helmut;
Scharrer, Anke;
de Boer, Elke;
Oostra, Roelof‐Jan

Publication type:

Article

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327

By:

Tallgren, Antti;
Kager, Leo;
O'Grady, Gina;
Tuominen, Hannu;
Körkkö, Jarmo;
Kuismin, Outi;
Feucht, Martha;
Wilson, Callum;
Behunova, Jana;
England, Eleina;
Kurki, Mitja I.;
Palotie, Aarno;
Hallman, Mikko;
Kaarteenaho, Riitta;
Laccone, Franco;
Boztug, Kaan;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

Urinary Tract Anomalies Associated with MTHFR Gene Polymorphism C677T in Girls.

Published in:

Kidney & Blood Pressure Research, 2011, v. 34, n. 6, p. 465, doi. 10.1159/000329935

By:

Behunova, Jana;
Klimcakova, Lucia;
Podracka, Ludmila

Publication type:

Article

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.

Published in:

Molecular Syndromology, 2018, v. 9, n. 6, p. 287, doi. 10.1159/000494451

By:

Behunova, Jana;
Gerykova Bujalkova, Maria;
Gras, Gabriel;
Taylor, Thomas;
Ihm, Ulrike;
Kircher, Susanne;
Rehder, Helga;
Laccone, Franco

Publication type:

Article

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02617-5

By:

Rehder, Helga;
Kircher, Susanne G.;
Schoner, Katharina;
Smogavec, Mateja;
Behunova, Jana;
Ihm, Ulrike;
Plassmann, Margit;
Hofer, Manuel;
Ringl, Helmut;
Laccone, Franco

Publication type:

Article

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Published in:

Genes, 2022, v. 13, n. 1, p. 154, doi. 10.3390/genes13010154

By:

Nagy, Dóra;
Verheyen, Sarah;
Wigby, Kristen M.;
Borovikov, Artem;
Sharkov, Artem;
Slegesky, Valerie;
Larson, Austin;
Fagerberg, Christina;
Brasch-Andersen, Charlotte;
Kibæk, Maria;
Bader, Ingrid;
Hernan, Rebecca;
High, Frances A.;
Chung, Wendy K.;
Schieving, Jolanda H.;
Behunova, Jana;
Smogavec, Mateja;
Laccone, Franco;
Witsch-Baumgartner, Martina;
Zobel, Joachim

Publication type:

Article

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1559, doi. 10.1002/ajmg.a.38828

By:

Rehder, Helga;
Laccone, Franco;
Kircher, Susanne G.;
Schild, Ralf L.;
Rapp, Christiane;
Bald, Rainer;
Schulze, Bernt;
Behunova, Jana;
Neesen, Juergen;
Schoner, Katharina

Publication type:

Article

Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population.

Published in:

Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2017, v. 161, n. 2, p. 152, doi. 10.5507/bp.2017.009

By:

Salagovica, Jan;
Klimcakova, Lucia;
Zabavnikova, Marianna;
Behunova, Jana;
Hudakova, Terezia;
Fedeles, Jozef;
Molnarova, Agata;
Podracka, Ludmila

Publication type:

Article