Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
Guardado en:
| Autores principales: | , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Wiley
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/d2544346b8a54870926ddcae5b29c011 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:d2544346b8a54870926ddcae5b29c011 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:d2544346b8a54870926ddcae5b29c0112021-11-21T19:38:54ZThings are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD112324-926910.1002/mgg3.1826https://doaj.org/article/d2544346b8a54870926ddcae5b29c0112021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1826https://doaj.org/toc/2324-9269Ana Latorre‐PellicerÁngela AscasoCristina Lucia‐CamposMarta Gil‐SalvadorMaría ArnedoRebeca AntoñanzasAriadna Ayerza‐CasasIñigo Marcos‐AlcaldePaulino Gómez‐PuertasFeliciano J. RamosJuan PiéBeatriz PuisacWileyarticleGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Genetics QH426-470 |
| spellingShingle |
Genetics QH426-470 Ana Latorre‐Pellicer Ángela Ascaso Cristina Lucia‐Campos Marta Gil‐Salvador María Arnedo Rebeca Antoñanzas Ariadna Ayerza‐Casas Iñigo Marcos‐Alcalde Paulino Gómez‐Puertas Feliciano J. Ramos Juan Pié Beatriz Puisac Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 |
| format |
article |
| author |
Ana Latorre‐Pellicer Ángela Ascaso Cristina Lucia‐Campos Marta Gil‐Salvador María Arnedo Rebeca Antoñanzas Ariadna Ayerza‐Casas Iñigo Marcos‐Alcalde Paulino Gómez‐Puertas Feliciano J. Ramos Juan Pié Beatriz Puisac |
| author_facet |
Ana Latorre‐Pellicer Ángela Ascaso Cristina Lucia‐Campos Marta Gil‐Salvador María Arnedo Rebeca Antoñanzas Ariadna Ayerza‐Casas Iñigo Marcos‐Alcalde Paulino Gómez‐Puertas Feliciano J. Ramos Juan Pié Beatriz Puisac |
| author_sort |
Ana Latorre‐Pellicer |
| title |
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 |
| title_short |
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 |
| title_full |
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 |
| title_fullStr |
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 |
| title_full_unstemmed |
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 |
| title_sort |
things are not always what they seem: from cornelia de lange to kbg phenotype in a girl with genetic variants in nipbl and ankrd11 |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/d2544346b8a54870926ddcae5b29c011 |
| work_keys_str_mv |
AT analatorrepellicer thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT angelaascaso thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT cristinaluciacampos thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT martagilsalvador thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT mariaarnedo thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT rebecaantonanzas thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT ariadnaayerzacasas thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT inigomarcosalcalde thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT paulinogomezpuertas thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT felicianojramos thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT juanpie thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 AT beatrizpuisac thingsarenotalwayswhattheyseemfromcorneliadelangetokbgphenotypeinagirlwithgeneticvariantsinnipblandankrd11 |
| _version_ |
1718418729366192128 |