نتائج البحث - "R B, Lowry"

1

An interstitial deletion of the long arm of chromosome 13

المؤلفون: R. B. Lowry, A. S. Robertson, Birgitte Roland, D. M. Cox

المصدر: Clinical Genetics. 35:276-281

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0fd589141785b554dc461170e9ccedTest
https://doi.org/10.1111/j.1399-0004.1989.tb02943.xTest

2

Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters

المؤلفون: C. C. Lin, R. B. Lowry, R. H. A. Haslam, J. J. Hoo

المصدر: Clinical Genetics. 27:420-425

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719f0d0a216cf622881f745a39a7afe4Test
https://doi.org/10.1111/j.1399-0004.1985.tb02287.xTest

3

The Grant Syndrome: Persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia - an autosomal dominant trait

المؤلفون: J R Maclean, R. B. Lowry, B. J. Wood

المصدر: Clinical Genetics. 29:523-529

مصطلحات موضوعية: Autosomal dominant trait, Anatomy, Biology, medicine.disease, Osteochondrodysplasia, Grant syndrome, Hypoplasia, Campomelic dysplasia, Osteogenesis imperfecta, Genetics, medicine, Wormian bones, Blue sclerae, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fc3888ee29f9cafe99b91ee0515165e9Test
https://doi.org/10.1111/j.1399-0004.1986.tb00554.xTest

4

Incidence of albinism in British Columbia (B.C.). Separation by hairbulb test

المؤلفون: R. B. Lowry, R. McLeod

المصدر: Clinical Genetics. 9:77-80

مصطلحات موضوعية: Male, Veterinary medicine, British Columbia, Albinism, Incidence (epidemiology), Separation (statistics), Infant, Newborn, Biology, medicine.disease, Genetics, medicine, Humans, Female, Genetics (clinical), Hair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd1e86ff6340a4ac067f0f6121e566a1Test
https://doi.org/10.1111/j.1399-0004.1976.tb01552.xTest

5

Hypospadias in successive generations - possible dominant gene inheritance

المؤلفون: R. B. Lowry, M. R. Kliman

المصدر: Clinical Genetics. 9:285-288

مصطلحات موضوعية: Male, Genetics, Hypospadias, Incidence (epidemiology), Inheritance (genetic algorithm), Consanguinity, Biology, medicine.disease, Pedigree, Recurrence risk, medicine, Humans, Female, Three generations, Genetics (clinical), Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f35489311650be65d6f49600394997Test
https://doi.org/10.1111/j.1399-0004.1976.tb01576.xTest

6

Phenylketonuria in British Columbia, Canada

المؤلفون: B. Tischler, R. B. Lowry

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Family medicine, medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5c42a5d19b16b2a3b46fe18134af6dbdTest
https://doi.org/10.1159/000401618Test

7

Common congenital anomalies

المؤلفون: R B, Lowry

المصدر: Canadian family physician Medecin de famille canadien. 31

مصطلحات موضوعية: Features

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9c6f031f0bd3a44ad673824a0d148d79Test
https://pubmed.ncbi.nlm.nih.gov/21274150Test

8

Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q1c to 6q16

المؤلفون: R. B. Lowry, Birgitte Roland, Lin Cc, D. M. Cox, Ferreira P

المصدر: Clinical Genetics. 43:117-121

مصطلحات موضوعية: Proband, Genetics, Microcephaly, integumentary system, Brachydactyly, Karyotype, Chromosomal rearrangement, Biology, medicine.disease, Molecular biology, Short stature, Hair whorl, Gene duplication, medicine, medicine.symptom, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4a9e23c475b01cee7a44951aab9e97c9Test
https://doi.org/10.1111/j.1399-0004.1993.tb04434.xTest

9

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

المؤلفون: G. Rizzoni, R. Tonlorenzi, Francesca Vitelli, Lucia Pucci, Mario Ventura, Elisa Rossi, Clifford E. Kashtan, Ilaria Meloni, Alessandra Renieri, R. B. Lowry, Barbara R. Pober

المصدر: Università degli Studi di Siena-IRIS

مصطلحات موضوعية: Male, Candidate gene, medicine.medical_specialty, X Chromosome, Nephritis, Hereditary, Biology, Contiguous gene syndrome, Exon, Intellectual Disability, Molecular genetics, Genetics, medicine, Humans, Alport syndrome, Child, Genetics (clinical), X chromosome, Point mutation, Chromosome Mapping, AMMECR1, medicine.disease, Pedigree, Female, Gene Deletion, Letter to JMG

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f74647cd08fd3297bfa90488831149Test
http://hdl.handle.net/11365/19048Test

10

Completeness and accuracy of the birth registry data on congenital anomalies in Alberta, Canada

المؤلفون: F L, Wang, S, Gabos, B, Sibbald, R B, Lowry

المصدر: Chronic diseases in Canada. 22(2)

مصطلحات موضوعية: Chi-Square Distribution, Population Surveillance, Humans, Reproducibility of Results, Registries, Alberta, Congenital Abnormalities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f1373ad657a46d1327d612ea91bdf79bTest
https://pubmed.ncbi.nlm.nih.gov/11525721Test

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