-
1
المصدر: American Journal of Medical Genetics Part A. 176:1375-1388
مصطلحات موضوعية: 0301 basic medicine, Candidate gene, business.industry, X-linked intellectual disability, Computational biology, medicine.disease, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Genetic linkage, Intellectual disability, Genetics, Medicine, Human genome, DNA microarray, business, Gene, Genetics (clinical)
-
2
المؤلفون: Richard J. Schroer, J F Arena, Bernhard Hane, Roger E. Stevenson, Herbert A. Lubs, Charles E. Schwartz
المصدر: Clinical Genetics. 50:176-183
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Genetic inheritance, Genetic Linkage, Chromosome Mapping, Locus (genetics), Middle Aged, Biology, Pedigree, Gene mapping, Genetic linkage, Dmd gene, Intellectual Disability, Humans, Crossing Over, Genetic, Gene, Genetics (clinical), X chromosome, Lod score
-
3
المؤلفون: Arthur L. Robinson, Ram S. Verma, Herbert A. Lubs, David Peakman
المصدر: Clinical Genetics. 11:227-234
مصطلحات موضوعية: Chromosome Aberrations, Male, Genetics, Down syndrome, Acridine orange, Infant, Chromosomal translocation, Biology, medicine.disease, Translocation, Genetic, Cell Line, chemistry.chemical_compound, chemistry, Karyotyping, Chromosomes, Human, 21-22 and Y, medicine, Humans, Female, R banding, Down Syndrome, Abnormality, Chromosome 21, Genetics (clinical)
-
4
المؤلفون: Astrid Bauer-Carlin, Michael J. Friez, Patrick S. Tarpey, Charles E. Schwartz, Sarah Edkins, Sylvain Briault, Cindy Skinner, Michael R. Stratton, Melanie M. May, Herbert A. Lubs, Jozef Gecz, F. Lucy Raymond, Sumy M Joseph, Richard J. Simensen, Roger E. Stevenson, Hiba Risheg, Jon W. Teague, Alain Verloes, Julie R. Jones, P. Andrew Futreal
المصدر: Journal of Medical Genetics. 44:472-477
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Maxillary hypoplasia, FG syndrome, Macrocephaly, Biology, medicine.disease, Hypotonia, MED12, Dysgenesis, Endocrinology, Internal medicine, medicine, Missense mutation, medicine.symptom, Letter to JMG, Genetics (clinical), X chromosome
-
5
المؤلفون: Herbert A. Lubs, Charles E. Schwartz, Charles A. Williams, Richard J. Simensen, Katie Clarkson, Roger E. Stevenson, Jo-Ann Blaymore Bier, Dianne N. Abuelo, Michael J. Friez, Shashidhar Pai, Julie R. Jones, Philip F. Giampietro
المصدر: Pediatrics. 118:e1687-e1695
مصطلحات موضوعية: Male, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Pathology, Muscle Hypotonia, Adolescent, Methyl-CpG-Binding Protein 2, MECP2 duplication syndrome, Recurrence, Gene Duplication, Intellectual Disability, Gene duplication, Humans, Medicine, Child, Respiratory Tract Infections, Skewed X-inactivation, Chromosomes, Human, X, Respiratory tract infections, business.industry, Respiratory infection, medicine.disease, Hypotonia, Pedigree, nervous system diseases, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a32454b3924623cee0a89d3fab231e48
https://doi.org/10.1542/peds.2006-0395 -
6
المؤلفون: Carlos Cardoso, Fatima Abidi, Herbert A. Lubs, Roger E. Stevenson, Albert E. Chudley, Marie-Geneviève Mattei, Robert Brian Lowry, Anne-Marie Lossi, Danielle Depetris, Charles E. Schwartz, Michel Fontes
المصدر: European Journal of Human Genetics. 13:176-183
مصطلحات موضوعية: Male, X-linked Nuclear Protein, Molecular Sequence Data, Genes, Recessive, Biology, medicine.disease_cause, Exon, Genetic linkage, Obligate carrier, Genetics, medicine, Humans, Amino Acid Sequence, Allele, Frameshift Mutation, Gene, Skewed X-inactivation, Genetics (clinical), Chromosomes, Human, X, Mutation, DNA Helicases, Nuclear Proteins, Exons, Molecular biology, Stop codon, Pedigree, Alternative Splicing, Phenotype, Mental Retardation, X-Linked, Female, RNA Splice Sites
-
7
المؤلفون: Charles E. Schwartz, Herbert A. Lubs, A. Lauren Cason, Tim Wood, Cindy Skinner, Anthony E. Pegg, Francisco Martínez, Richard J. Simensen, Roger E. Stevenson, Kenton R. Holden, Yoshihiko Ikeguchi
المصدر: European Journal of Human Genetics. 11:937-944
مصطلحات موضوعية: Male, Genetic Linkage, Spermine Synthase, Spermine, medicine.disease_cause, chemistry.chemical_compound, Intellectual Disability, Genetics, medicine, Humans, Genetics (clinical), DNA Primers, Chromosomes, Human, X, Mutation, Base Sequence, biology, Reverse Transcriptase Polymerase Chain Reaction, Inward-rectifier potassium ion channel, Biogenic Polyamines, Pedigree, Cell biology, Spermidine, chemistry, Biochemistry, Spermine synthase, biology.protein, Putrescine, Female, Polyamine, Intracellular
-
8
المؤلفون: Herbert A. Lubs, Charles E. Schwartz, Roger A. Stevenson, Huntington F. Willard, Robert M. Plenge
المصدر: The American Journal of Human Genetics. 71(1):168-173
مصطلحات موضوعية: Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Genetic Linkage, Biology, medicine.disease_cause, Genetic determinism, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Internal medicine, Dosage Compensation, Genetic, Intellectual Disability, Report, medicine, Genetics, Humans, Genetics(clinical), Skewed X-inactivation, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Mutation, Heterozygote advantage, medicine.disease, Pedigree, Androgen receptor, Developmental disorder, Endocrinology, Receptors, Androgen, Case-Control Studies, Female, 030217 neurology & neurosurgery
-
9
المؤلفون: S Pouls, Charles E. Schwartz, Melanie May, RR Lebel, Roger E. Stevenson, Herbert A. Lubs
المصدر: Clinical Genetics. 61:139-145
مصطلحات موضوعية: Genetics, Biology, medicine.disease, Short stature, Exon, Aarskog Syndrome, FGD1, Obligate carrier, medicine, Missense mutation, medicine.symptom, Aarskog–Scott syndrome, Genetics (clinical), X chromosome
-
10
المؤلفون: Charles E. Schwartz, Fatima Abidi, Ronald G. Cadle, Roger E. Stevenson, Bryan D. Hall, J. Fernando Arena, Gerald L. Feldman, Lizbeth V. Ouzts, Herbert A. Lubs
المصدر: American Journal of Medical Genetics. 85:223-229
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Hearing loss, Physiology, Locus (genetics), medicine.disease, Short stature, Hypoplasia, Perimeter, Developmental disorder, Endocrinology, Genetic linkage, Internal medicine, medicine, medicine.symptom, business, Genetics (clinical), X chromosome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c1e69e3a068015cb473a4918b87a691a
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<223::aid-ajmg8>3.0.co;2-r