المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/presentation/Presentation_3_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_PPTX/15082272

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s003

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/presentation/Presentation_4_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_PPTX/15082275

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s004

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/presentation/Presentation_2_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_PPTX/15082269

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s002

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/presentation/Presentation_1_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_PPTX/15082266

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s001

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_6_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_DOCX/15082296

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s010

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_1_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_DOCX/15082278

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s005

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_2_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_DOCX/15082281

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s006

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_5_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_DOCX/15082290

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s009

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_3_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_xlsx/15082284

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s007

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_4_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_DOCX/15082287

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s008

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_9_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_DOCX/15082308

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s013

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_8_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_docx/15082305

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s012

المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems

Relation: https://figshare.com/articles/dataset/Table_7_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_DOCX/15082302

الاتاحة: https://doi.org/10.3389/fgene.2021.645595.s011

المؤلفون: Shaun Pienkos (10727436), Natalia Gallego (326018), David F. Condon (10727439), Alejandro Cruz-Utrilla (10727442), Nuria Ochoa (10727445), Julián Nevado (185500), Pedro Arias (6651353), Stuti Agarwal (10727448), Hiral Patel (598531), Ananya Chakraborty (5440382), Pablo Lapunzina (270559), Pilar Escribano (335873), Jair Tenorio-Castaño (10727451), Vinicio A. de Jesús Pérez (10727454)

مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, pulmonary arterial hypertension, NF-κB, inflammation, massive paralleled sequencing, TNIP2, TRAF2

Relation: https://figshare.com/articles/figure/Image_1_Novel_TNIP2_and_TRAF2_Variants_Are_Implicated_in_the_Pathogenesis_of_Pulmonary_Arterial_Hypertension_tiff/14516889

الاتاحة: https://doi.org/10.3389/fmed.2021.625763.s001

المؤلفون: Sarah Berrocoso (9538679), Imanol Amayra (8911580), Esther Lázaro (9538682), Oscar Martínez (8911589), Juan Francisco López-Paz (8911598), Maitane García (8911586), Manuel Pérez (2643775), Mohammad Al-Rashaida (8911601), Alicia Aurora Rodríguez (8911604), Paula Maria Luna (9538685), Paula Pérez-Núñez (9538688), Raquel Blanco (2396584), Julián Nevado (185500)

مصطلحات موضوعية: Medicine, Neuroscience, Biotechnology, Sociology, Cancer, Science Policy, Mental Health, Biological Sciences not elsewhere classified, Wolf-Hirschhorn syndrome, 4p deletion, Caregivers, Quality of life, Coping, Depression, Social support, Spirituality

Relation: https://figshare.com/articles/figure/Additional_file_2_of_Coping_with_Wolf-Hirschhorn_syndrome_quality_of_life_and_psychosocial_features_of_family_carers/13115180

الاتاحة: https://doi.org/10.6084/m9.figshare.13115180.v1

المؤلفون: Sarah Berrocoso (9538679), Imanol Amayra (8911580), Esther Lázaro (9538682), Oscar Martínez (8911589), Juan Francisco López-Paz (8911598), Maitane García (8911586), Manuel Pérez (2643775), Mohammad Al-Rashaida (8911601), Alicia Aurora Rodríguez (8911604), Paula Maria Luna (9538685), Paula Pérez-Núñez (9538688), Raquel Blanco (2396584), Julián Nevado (185500)

مصطلحات موضوعية: Medicine, Neuroscience, Biotechnology, Sociology, Cancer, Science Policy, Mental Health, Biological Sciences not elsewhere classified, Wolf-Hirschhorn syndrome, 4p deletion, Caregivers, Quality of life, Coping, Depression, Social support, Spirituality

Relation: https://figshare.com/articles/figure/Additional_file_1_of_Coping_with_Wolf-Hirschhorn_syndrome_quality_of_life_and_psychosocial_features_of_family_carers/13115177

الاتاحة: https://doi.org/10.6084/m9.figshare.13115177.v1