Works matching DE "SIRENOMELIA"


Results: 105
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    Psychometric findings for LIMB-Q kids based on an international study of 800 children and adolescents with lower limb differences.

    Published in:
    Journal of Patient-Reported Outcomes, 2025, v. 9, n. 1, p. 1, doi. 10.1186/s41687-025-00916-y
    By:
    • Chhina, Harpreet;
    • Rae, Charlene;
    • Podeszwa, David;
    • Fernandes, James A.;
    • Johnson, Louise;
    • Vogt, Bjoern;
    • Rolfing, Jan Duedal;
    • Kerrigan, Alicia;
    • Ranade, Ashish;
    • Messner, Juergen;
    • Belthur, Mohan;
    • Esparza, Melissa;
    • Wright, Jonathan;
    • Bade, David;
    • McMahon, Sarah;
    • Iobst, Christopher;
    • Sabharwal, Sanjeev;
    • Abouassaly, Marcel;
    • Cooper, Anthony;
    • Klassen, Anne F.
    Publication type:
    Article
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    Sirenomelia: Olgu sunumu.

    Published in:
    Perinatal Journal / Perinatoloji Dergisi, 2012, v. 20, n. 2, p. 59, doi. 10.2399/prn.12.0201005
    By:
    • Demir, Bülent;
    • Güzel, Ali İrfan;
    • Demir, Süreyya;
    • Kılınç, Nihal
    Publication type:
    Article
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    The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
    By:
    • Stevens, Servi J. C.;
    • Stumpel, Constance T. R. M.;
    • Diderich, Karin E. M.;
    • van Slegtenhorst, Marjon A.;
    • Abbott, Mary‐Alice;
    • Manning, Courtney;
    • Balciuniene, Jorune;
    • Pyle, Louise C.;
    • Leonard, Jacqueline;
    • Murrell, Jill R.;
    • van de Putte, Romy;
    • van Rooij, Iris A. L. M.;
    • Hoischen, Alexander;
    • Lasko, Paul;
    • Brunner, Han G.
    Publication type:
    Article
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    Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03106-z
    By:
    • Pfeifer, Mateja;
    • Rehder, Helga;
    • Gerykova Bujalkova, Maria;
    • Bartsch, Christine;
    • Fritz, Barbara;
    • Knopp, Cordula;
    • Beckers, Björn;
    • Dohle, Frank;
    • Meyer-Wittkopf, Matthias;
    • Axt-Fliedner, Roland;
    • Beribisky, Alexander V.;
    • Hofer, Manuel;
    • Laccone, Franco;
    • Schoner, Katharina
    Publication type:
    Article
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    Mermaid Syndrome.

    Published in:
    Journal of Nepal Paediatric Society, 2018, v. 38, n. 2, p. 132, doi. 10.3126/jnps.v38i2.18802
    By:
    • A. B., Siddique Md;
    • S., Saha;
    • K., Bose;
    • S., Ghorai;
    • K., Khan
    Publication type:
    Article
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    The Gollop–Wolfgang Complex: A Case Report.

    Published in:
    Pediatric Reports, 2025, v. 17, n. 2, p. 47, doi. 10.3390/pediatric17020047
    By:
    • Kim, Jun-Bum;
    • Lee, Byung-Ryul;
    • Park, Jong-Seok;
    • Hong, Chang-Hwa;
    • Kwon, Sai-Won;
    • Kim, Woo-Jong;
    • Wang, Soon-Do;
    • Lee, Dong-Woo;
    • Nam, Kyeung-Min;
    • Jung, Ki-Jin
    Publication type:
    Article
    33

    Fibular hemimelia.

    Published in:
    Journal of Medicine & Life, 2022, v. 15, n. 4, p. 587, doi. 10.25122/jml-2021-0397
    By:
    • Georgescu, Tiberiu;
    • Ionescu, Olivia;
    • Toader, Oana Daniela;
    • Bacalbasa, Nicolae;
    • Pop, Lucian Gheorge
    Publication type:
    Article
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    DRYOPHYTES EXIMIUS.

    Published in:
    Herpetological Review, 2024, v. 55, n. 2, p. 240
    By:
    • OSNAYA-BECERRIL, JANET ELIZABETH;
    • MARTÍNEZ-CORONEL, MATÍAS;
    • TENORIO-MENDOZA, ROBERTO
    Publication type:
    Article
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    A rare case of radius hemimelia: a case report.

    Published in:
    Pan African Medical Journal, 2022, v. 41, p. 1, doi. 10.11604/pamj.2022.41.304.32909
    By:
    • Babar, Tejal Kishor;
    • Wadhokar, Om Chandrakant;
    • Deshmukh, Mitushi Kishorrao
    Publication type:
    Article