المؤلفون: Noelia Baz-Redón, Laura Soler-Colomer, Mónica Fernández-Cancio, Sara Benito-Sanz, Marta Garrido, Teresa Moliné, María Clemente, Núria Camats-Tarruella, Diego Yeste

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: 46,XY different sexual development, syndromic DSD, HHAT, minigene studies, case report, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.957969/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/454ccb56ce014be6b7ec13e3e295643d

المؤلفون: Miriam Aza-Carmona, Veronica Barca-Tierno, Alfonso Hisado-Oliva, Alberta Belinchón, Darya Gorbenko-del Blanco, Jose Ignacio Rodriguez, Sara Benito-Sanz, Angel Campos-Barros, Karen E Heath

المصدر: PLoS ONE, Vol 9, Iss 1, p e83104 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24421874/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/89a138f2f118481c9cfa442111c15dd6

المؤلفون: Silvia Modamio-Høybjør, Isabel González-Casado, Angel Campos-Barros, Francisca Díaz-González, José Antonio Bermúdez de la Vega, Fernando Santos-Simarro, Atilano Carcavilla, Ana C Barreda-Bonis, Carolina de la Torre, Purificación Ros-Pérez, Inés Mulero-Collantes, Sara Benito-Sanz, Angela del Pozo, Mario Solís, Jesús González de Buitrago Amigo, Julián Nevado, Lucia Sentchordi-Montané, André M. Travessa, Pablo Prieto, Miriam Aza-Carmona, Pilar Bahíllo-Curieses, Elena Vallespín, Jaime Cruz-Rojo, Manuel Parrón-Pajares, Joaquín Ramírez-Fernández, Karen E. Heath, Pablo Ruiz-Ocaña, Carlos Goetz, Carolina Bezanilla-López

المصدر: European Journal of Endocrinology. 185:691-705

مصطلحات موضوعية: Male, Proband, Heterozygote, medicine.medical_specialty, Adolescent, Skeletal anomalies, Endocrinology, Diabetes and Metabolism, Dwarfism, Osteochondrodysplasias, Bioinformatics, Short stature, Bone and Bones, Endocrinology, Internal medicine, Prevalence, Humans, Medicine, Growth Plate, Child, Gene, High prevalence, Anthropometry, business.industry, Genetic Variation, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, Body Height, Pedigree, PTPN11, Dysplasia, Child, Preschool, Female, medicine.symptom, business, General Economics, Econometrics and Finance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa82ec02866d87f9d31b040bb8675c7
https://doi.org/10.1530/eje-21-0557

المؤلفون: Mónica Fernández-Cancio, Norio Kagawa, Núria Camats, Maria Natalia Rojas Velazquez, Sameer S Udhane, Shaheena Parween, Sara Benito-Sanz, Laura Audi, Christa E. Flück, Amit V. Pandey, Juan-Pedro López-Siguero

المصدر: Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück Pandey, Christa Emma; Audí, Laura; Pandey, Amit Vikram (2020). Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. The journal of clinical endocrinology and metabolism, 105(4), e1272-e1290. Oxford University Press 10.1210/clinem/dgaa076 <http://dx.doi.org/10.1210/clinem/dgaa076>

مصطلحات موضوعية: Male, medicine.medical_specialty, 46, XX Disorders of Sex Development, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 610 Medicine & health, Context (language use), Compound heterozygosity, medicine.disease_cause, PORD, Biochemistry, Aromatase, Endocrinology, Internal medicine, CYP17A1, congenital adrenal hyperplasia, Humans, Medicine, Congenital adrenal hyperplasia, Child, CY19A1, Mutation, Adrenal Hyperplasia, Congenital, biology, business.industry, Virilization, Biochemistry (medical), Prognosis, medicine.disease, POR, Pedigree, CYP21A2, Phenotype, biology.protein, Female, medicine.symptom, business, Aromatase deficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712d2ed777edd2fc51b2e0fe97c9147e
https://doi.org/10.1210/clinem/dgaa076

المؤلفون: Ramakrishnan Puzhankara, Mónica Fernández-Cancio, Naveen Viswanath, Sara Benito-Sanz, Laura Audí, Núria Camats, Cristina Mora-Palma, Praveen Valiyaprambil Pavithran

المصدر: Sexual Development. 13:87-91

مصطلحات موضوعية: endocrine system, Embryology, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030232 urology & nephrology, 030209 endocrinology & metabolism, Gene mutation, Biology, medicine.disease, Compound heterozygosity, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine.anatomical_structure, Male patient, Clinical diagnosis, Persistent Müllerian duct syndrome, medicine, Missense mutation, Duct (anatomy), Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::98ab6366f7eb1dcddefad0345fa5574e
https://doi.org/10.1159/000499324

المؤلفون: Sara Benito-Sanz, John Cobb, Karen E. Heath, Jessica M. Rosin, Isabella Skuplik, Brent E. Bobick

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, Transgene, lcsh:Medicine, Mice, Transgenic, 030105 genetics & heredity, Biology, medicine.disease_cause, Osteochondrodysplasias, Conserved sequence, 03 medical and health sciences, Short Stature Homeobox Protein, medicine, Animals, Humans, Luciferase, Transgenes, Hox gene, Enhancer, Luciferases, lcsh:Science, Base Pairing, Conserved Sequence, Growth Disorders, Regulation of gene expression, Genetics, Mutation, Multidisciplinary, Binding Sites, Genome, Base Sequence, lcsh:R, Gene Expression Regulation, Developmental, Extremities, 030104 developmental biology, Enhancer Elements, Genetic, lcsh:Q, Haploinsufficiency, Gene Deletion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5c78f61397a9e8c04d3052c95945fa6
http://link.springer.com/article/10.1038/s41598-018-32565-1

المؤلفون: Sara Benito-Sanz, Pablo Ruiz-Ocaña, Inés Mulero-Collantes, Dinis I, Elena Vallespín, Alfonso M. Lechuga-Sancho, Del Pozo A, Sánchez-Garre C, Ana C Barreda-Bonis, Purificación Ros-Pérez, Carcavilla-Urquí A, Amaka C. Offiah, Isabel González-Casado, Miriam Aza-Carmona, Karen E. Heath, Manuel Parrón-Pajares, P. Prieto-Matos, Sousa Sb, Lucia Sentchordi-Montané, Gabriel Á. Martos-Moreno

المصدر: Clinical Endocrinology

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Spondyloepiphyseal dysplasia, Heterozygote, medicine.medical_specialty, Candidate gene, Adolescent, Endocrinology, Diabetes and Metabolism, skeletal dysplasia, Estatura/genética, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Endocrinology, Internal medicine, medicine, Humans, Aggrecans, Child, Agrecanas/genética, Spondyloepimetaphyseal dysplasia, business.industry, Brachydactyly, ACAN, Infant, Braquidactilia/genética, Bone age, medicine.disease, short stature, Dysplasia, Child, Preschool, Mutation, Female, aggrecan, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96e90b9c3c76c3001a5f10613b97fb36
https://doi.org/10.1111/cen.13581

المؤلفون: Núria Camats, Sameer S Udhane, Mónica Fernández-Cancio, Maria Natalia Rojas Velazquez, Sara Benito-Sanz, Christa E. Flück, Norio Kagawa, Shaheena Parween, Juan-Pedro López-Siguero, Laura Audi, Amit V. Pandey

مصطلحات موضوعية: 030213 general clinical medicine, medicine.medical_specialty, Mutation, biology, business.industry, Virilization, 030209 endocrinology & metabolism, Context (language use), medicine.disease, medicine.disease_cause, Compound heterozygosity, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, CYP17A1, Internal medicine, medicine, biology.protein, Congenital adrenal hyperplasia, Aromatase, medicine.symptom, Aromatase deficiency, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::00218476019d625a7bb33d22e4861ff8
https://doi.org/10.20944/preprints201909.0103.v2

المؤلفون: Alexander A. L. Jorge, Larisa Suarez-Ortega, Ana Portela, Sara Benito-Sanz, Gabriel Á. Martos-Moreno, Purificación Ros-Pérez, Inés Mulero-Collantes, Lucía Garzón-Lorenzo, Antonio M. Lerario, Guiomar Perez de Nanclares, Elena Vallespín, J. Pozo, Karen E. Heath, Isabel Llano-Rivas, Pablo Ruiz-Ocaña, Lucia Sentchordi-Montané, Miriam Aza-Carmona, Nancy Elizabeth Portillo-Najera, Jesús González-Buitrago, Gabriela A Vasques, André M. Travessa, Angela del Pozo, Cristina Alfaro-Iznaola, Isabel González-Casado, María Martín-Frías, Arrate Pereda, Mariana F A Funari, Mario Solís, Paula Casano-Sancho, Lorea Ruiz-Pérez, Carolina de la Torre, Manuel Parrón-Pajares, Joaquín Ramírez-Fernández, Patrícia Dias

المصدر: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Adolescent, IHH, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, Context (language use), Biology, Biochemistry, Short stature, Polymorphism, Single Nucleotide, Cohort Studies, symbols.namesake, Endocrinology, Genotype-phenotype distinction, Internal medicine, medicine, Humans, Hedgehog Proteins, Child, Gene, Sanger sequencing, Genetics, short stature, Biochemistry (medical), Brachydactyly, brachydactyly, Infant, medicine.disease, Hand, Phenotype, Body Height, Pedigree, body regions, Radiography, NGS, Child, Preschool, Mutation, symbols, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a42a530442551cf57ef0f1c25a72498
https://pubmed.ncbi.nlm.nih.gov/32311039

المؤلفون: Sameer S Udhane, Norio Kagawa, Shaheena Parween, Laura Audí, Sara Benito-Sanz, Velazquez Mnr, Juan-Pedro López-Siguero, Christa E. Flück, Amit V. Pandey, Fernández Cancio M, Núria Camats

مصطلحات موضوعية: medicine.medical_specialty, Arginine, Tryptophan, Biology, medicine.disease, Phenotype, 3. Good health, Endocrinology, Internal medicine, Mutation (genetic algorithm), medicine, Endocrine system, Congenital adrenal hyperplasia, Aromatase deficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee37e2b657f4962f5c12b7c10cbe08ed
https://doi.org/10.20944/preprints201909.0103.v1

المؤلفون: Sara Benito-Sanz, Juan-Pedro López-Siguero, Norio Kagawa, Amit V. Pandey, Mónica Fernández-Cancio, Laura Audí, Sameer S Udhane, Christa E. Flück, Shaheena Parween, Núria Camats

المصدر: The FASEB Journal. 33

مصطلحات موضوعية: Biochemistry, Chemistry, NADPH Cytochrome P450 Oxidoreductase, Genetics, Molecular Biology, Novel mutation, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::378783feacfb4690baf17b316072dc9d
https://doi.org/10.1096/fasebj.2019.33.1_supplement.469.4

المؤلفون: Carolina De La Torre, Judith L. Ross, Céline Huber, N. Simon Thomas, Isabel González-Casado, Sara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, Valérie Cormier-Daire, Karen E. Heath, Andrew R. Zinn

المصدر: Journal of Human Genetics. 62:229-234

مصطلحات موضوعية: 0301 basic medicine, Pseudoautosomal region, Biology, Osteochondrodysplasias, 03 medical and health sciences, Short Stature Homeobox Protein, Gene Duplication, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Growth Disorders, Genetics (clinical), Sequence Deletion, Homeodomain Proteins, Comparative Genomic Hybridization, Langer mesomelic dysplasia, Base Sequence, Short stature homeobox gene, Point mutation, Breakpoint, Intron, Sequence Analysis, DNA, medicine.disease, Introns, Idiopathic short stature, 030104 developmental biology, Multiplex Polymerase Chain Reaction, Nucleic Acid Amplification Techniques

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a330c1f53d7b814305eae15b8e0edba
https://doi.org/10.1038/jhg.2016.113

المؤلفون: Mónica, Fernández-Cancio, Naveen, Viswanath, Ramakrishnan, Puzhankara, Praveen, Valiyaprambil Pavithran, Cristina, Mora-Palma, Núria, Camats, Laura, Audí, Sara, Benito-Sanz

المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 13(2)

مصطلحات موضوعية: Male, Disorder of Sex Development, 46,XY, Receptors, Peptide, Homozygote, Mutation, Infant, Newborn, Humans, Infant, Laparoscopy, Receptors, Transforming Growth Factor beta

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d46e36227791b57cefcaf9dffdae7997
https://pubmed.ncbi.nlm.nih.gov/30933950

المؤلفون: Carlos I. Rivera-Pedroza, Encarna Guillén-Navarro, Julia Berges-Soria, Karen E. Heath, Sara Benito-Sanz, Eva Barroso, María Juliana Ballesta-Martínez, Vanesa López-González

المصدر: American Journal of Medical Genetics Part A. 167:902-906

مصطلحات موضوعية: Male, Regulatory Sequences, Nucleic Acid, Biology, Craniosynostosis, Craniosynostoses, Genetic linkage, Gene duplication, Genetics, medicine, Humans, Hedgehog Proteins, Syndactyly, Child, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Chromosome, Anatomy, Phalanx, medicine.disease, Craniosynostosis Philadelphia type, Penetrance, Pedigree, Radiography, Phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4e37713cb16328d1fa7ac609720f3c
https://doi.org/10.1002/ajmg.a.36811

المؤلفون: Carolina Bezanilla-López, Miriam Aza-Carmona, Jimena Barraza-García, Maria Rodriguez-Zabala, Karen E. Heath, Antonio M. Lerario, Lucia Sentchordi, Alfonso Hisado-Oliva, Marta Alonso-Bernáldez, Alba Ruzafa-Martin, Sara Benito-Sanz, Mariana F A Funari, Angel Campos-Barros, Alexander A. L. Jorge

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Heterozygote, Adolescent, medicine.drug_class, DNA Mutational Analysis, Dwarfism, Biology, medicine.disease_cause, Short stature, 03 medical and health sciences, Internal medicine, Exome Sequencing, medicine, Natriuretic peptide, Humans, Amino Acid Sequence, Achondroplasia, Growth Charts, Child, Peptide sequence, Genetics (clinical), Genes, Dominant, Mutation, Computational Biology, Natriuretic Peptide, C-Type, medicine.disease, NPR2, Idiopathic short stature, 030104 developmental biology, Endocrinology, Phenotype, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f8080010da573e6c82ab541ce637cf
https://pubmed.ncbi.nlm.nih.gov/28661490

المؤلفون: Karen E. Heath, Ricardo Gracia, Patricia Yuste-Checa, A. Aragones, Sara Benito-Sanz, Eva Barroso, Alberta Belinchón, Angel Campos-Barros

المصدر: European Journal of Medical Genetics. 53:204-207

مصطلحات موضوعية: Male, Proband, Pseudoautosomal region, Dwarfism, Germline mosaicism, Biology, Osteochondrodysplasias, Short stature, Short Stature Homeobox Protein, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Child, Downstream Enhancer, Léri–Weill dyschondrosteosis, Genetics (clinical), Sequence Deletion, Homeodomain Proteins, Syndrome, General Medicine, medicine.disease, Pedigree, Mutation, Female, medicine.symptom, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e8cf16bf630773e9cb51bc06a5fe910
https://doi.org/10.1016/j.ejmg.2010.04.003

المؤلفون: Inge Francois, Bert Callewaert, Sara Benito-Sanz, José Luis Gómez-Skarmeta, Ana Fernández-Miñán, Jean De Schepper, Björn Menten, Sandra Janssens, Karen E. Heath, Kathleen De Waele, Elfride De Baere, Hannah Verdin

المساهمون: Clinical sciences

المصدر: Scientific Reports
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
SCIENTIFIC REPORTS

مصطلحات موضوعية: 0301 basic medicine, Patients, Medicina, Biology, PSEUDOAUTOSOMAL REGION 1, LERI-WEILL DYSCHONDROSTEOSIS, Article, 03 medical and health sciences, Transcription (biology), medicine, Medicine and Health Sciences, IDIOPATHIC SHORT STATURE, HUMAN GENOME, Copy-number variation, Enhancer, CHROMOSOME CONFORMATION, Léri–Weill dyschondrosteosis, Gene, LANGER MESOMELIC DYSPLASIA, Genetics, Genetics defects, Multidisciplinary, TURNER-SYNDROME, TIME QUANTITATIVE PCR, medicine.disease, HOMEOBOX GENE SHOX, Chromatin, 030104 developmental biology, COPY NUMBER, CNEs, Homeobox, Human genome, SHOX

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee724130c5a1673c3bae17a2574ef013
https://doi.org/10.1038/srep17667

المؤلفون: Sara Benito-Sanz, Gianni Carlone, Alfonso Hisado-Oliva, Joaquin Ramirez, Ana C Barreda-Bonis, Gabriela A Vasques, Isabel González-Casado, Alberta Belinchón, Angel Campos-Barros, Alexander A. L. Jorge, Fabiola Santaolalla-Caballero, Cristina Luzuriaga, Ana Isabel Garre-Vazquez, Karen E. Heath

المصدر: The Journal of clinical endocrinology and metabolism. 100(8)

مصطلحات موضوعية: Male, medicine.medical_specialty, Heterozygote, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutation, Missense, Context (language use), Dwarfism, Biology, medicine.disease_cause, Osteochondrodysplasias, Biochemistry, Short stature, Cohort Studies, Endocrinology, Gene Frequency, Internal medicine, Chlorocebus aethiops, medicine, Tumor Cells, Cultured, Missense mutation, Animals, Humans, Léri–Weill dyschondrosteosis, Growth Disorders, Mutation, Biochemistry (medical), Guanylate cyclase activity, medicine.disease, NPR2, Idiopathic short stature, Amino Acid Substitution, COS Cells, Female, medicine.symptom, Receptors, Atrial Natriuretic Factor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51743539f141c2a60f9fd43aac477df
https://pubmed.ncbi.nlm.nih.gov/26075495

المؤلفون: Céline Huber, Valérie Cormier-Daire, Darya Gorbenko del Blanco, Karen E. Heath, Angel Campos-Barros, Vivienne Maloney, Miriam Aza-Carmona, Sara Benito-Sanz, John A. Crolla, N. Simon Thomas, Jesús Argente

المصدر: The American Journal of Human Genetics. 77(4):533-544

مصطلحات موضوعية: Genetics, Langer mesomelic dysplasia, Genetic heterogeneity, Pseudoautosomal region, Articles, Biology, medicine.disease, Short stature, Idiopathic short stature, Short Stature Homeobox Protein, medicine, Genetics(clinical), medicine.symptom, Haploinsufficiency, Léri–Weill dyschondrosteosis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185db7e77aaaf3954b7dd4839a972455

المؤلفون: Juliana María Ballesta-Martínez, Sixto García-Miñaur, Encarna Guillén-Navarro, Angel Campos-Barros, Julia Berges-Soria, Beatriz Paumard-Hernández, Fernando Santos, A. Romance, Karen E. Heath, Pablo Lapunzina, Sara Benito-Sanz, Ignacio García-Recuero, Jaime Cruz, Vanesa López-González, J. Pozo, Virginia Pérez-Carrizosa, Eva Barroso, Eva López-Messa, Carlos I. Rivera-Pedroza

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Ephrin-B1, Sensitivity and Specificity, Article, Craniosynostosis, Cohort Studies, Craniosynostoses, Gene duplication, Genetics, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, Receptor, Fibroblast Growth Factor, Type 3, Genetic Predisposition to Disease, Genetic Testing, Receptor, Fibroblast Growth Factor, Type 1, Receptor, Fibroblast Growth Factor, Type 2, Genetics (clinical), Family Health, business.industry, Twist-Related Protein 1, Nuclear Proteins, Reproducibility of Results, medicine.disease, Craniosynostosis Philadelphia type, Pedigree, medicine.anatomical_structure, HEK293 Cells, Spain, Mutation (genetic algorithm), Mutation, Female, Coronal suture, business, Cohort study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3801fba5cc7cdaedc04f9b86d5c1d45b
https://europepmc.org/articles/PMC4463497/