نتائج البحث - "Begleiter, Michael L."

1

دورية أكاديمية

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus

المصدر: The American Journal of Human Genetics ; volume 99, issue 4, page 1000 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.09.003Test
https://api.elsevier.com/content/article/PII:S0002929716303822?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929716303822?httpAccept=text/plainTest

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2

دورية أكاديمية

The genetic basis of DOORS syndrome: an exome-sequencing study.

المؤلفون: Campeau, Philippe M., Kasperaviciute, Dalia, Lu, James T., Burrage, Lindsay C., Kim, Choel, Hori, Mutsuki, Powell, Berkley R., Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D.V., Begleiter, Michael L., De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L., Repetto, Gabriela M., Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G., Bhaskar, Sanjeev S., Dickerson, Jonathan E., Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C., Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C., Gibbs, Richard A., Lee, Brendan H., Sisodiya, Sanjay M.

وصف الملف: text

العلاقة: http://eprints.gla.ac.uk/122442/1/122442.pdfTest; Campeau, P. M. et al. (2014) The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurology , 13(1), pp. 44-58. (doi:10.1016/S1474-4422(13)70265-5 ) (PMID:24291220) (PMCID:PMC3895324)

الإتاحة: https://doi.org/10.1016/S1474-4422Test(13)70265-5
http://eprints.gla.ac.uk/122442Test/
http://eprints.gla.ac.uk/122442/1/122442.pdfTest

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3

دورية أكاديمية

The genetic basis of DOORS syndrome:an exome-sequencing study

المؤلفون: Campeau, Philippe M., Kasperaviciute, Dalia, Lu, James T., Burrage, Lindsay C., Kim, Choel, Hori, Mutsuki, Powell, Berkley R., Stewart, Fiona, Felix, Temis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Huelya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D. V., Begleiter, Michael L., De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L., Repetto, Gabriela M., Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G., Bhaskar, Sanjeev S., Dickerson, Jonathan E., Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C., Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C., Gibbs, Richard A., Lee, Brendan H., Sisodiya, Sanjay M.

المصدر: Campeau , P M , Kasperaviciute , D , Lu , J T , Burrage , L C , Kim , C , Hori , M , Powell , B R , Stewart , F , Felix , T M , van den Ende , J , Wisniewska , M , Kayserili , H , Rump , P , Nampoothiri , S , Aftimos , S , Mey , A , Nair , L D V , Begleiter , M L , De Bie , I , Meenakshi , G , Murray , M L , Repetto , G ....

مصطلحات موضوعية: MENTAL-RETARDATION, INFANTILE SEIZURES, FOCAL EPILEPSY, MUTATIONS, DEAFNESS, DISORDERS, PROTEINS, SPECTRUM, DOMAIN

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/3b9a6aef-86b8-4251-8cd3-d24aeb659813Test

الإتاحة: https://doi.org/10.1016/S1474-4422Test(13)70265-5
https://hdl.handle.net/11370/3b9a6aef-86b8-4251-8cd3-d24aeb659813Test
https://research.rug.nl/en/publications/3b9a6aef-86b8-4251-8cd3-d24aeb659813Test
https://pure.rug.nl/ws/files/118494557/The_genetic_basis_of_DOORS_syndrome_an_exome_sequencing_study.pdfTest

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4

دورية أكاديمية

Ashkenazi Jewish genetic disease carrier screening

المؤلفون: Begleiter, Michael L., Buchholz, Janda L., Atherton, Andrea M., Mays, Lee Z., Lund, Molly M., Strenk, Meghan E.

المصدر: Genetics in Medicine ; volume 10, issue 6, page 461 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1097/gim.0b013e318170f87eTest
https://api.elsevier.com/content/article/PII:S1098360021030732?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021030732?httpAccept=text/plainTest

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5

دورية أكاديمية

Drowning as a Cause of Death in Angelman Syndrome.

المؤلفون: Ishmael, Holly A., Begleiter, Michael L., Butler, Merlin G.

المصدر: American Journal on Mental Retardation. Jan 2002 107(1):69-70.

تمت مراجعته من قبل الزملاء: N

Page Count: 2

الواصفات: Accident Prevention, Accidents, Children, Death, Injuries, Mental Retardation, Swimming, Swimming Pools, Symptoms (Individual Disorders), Water

6

دورية أكاديمية

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

المؤلفون: Aftimos, Salim, Banka, Siddharth, Begleiter, Michael L, Bilo, Leonilda, Blair, Edward, Burrage, Lindsay C, Liu, David S, De Bie, Isabelle, Félix, Têmis Maria, Giltay, Jacques C, Gibbs, Richard A, Giuliano, Fabienne, Hadzsiev, Kinga, Hori, Mutsuki, Kariminejad, Ariana, Kayserili, Hülya, Kerr, Bronwyn, Lee, Brendan H, Lu, James T, Male, Alison, Meenakshi, Girish, Mey, Antje, Murray, Mitzi L, Nair, Lal D V, Nampoothiri, Sheela, Newman, William G, Peluso, Silvio, Peters, Heidi, Powell, R, Repetto, Gabriela M, Rump, Patrick, Santos-Simarro, Fernando, Stewart, Fiona, van Bever, Yolande, van den Ende, Jenneke, Wieczorek, Dagmar, Wisniewska, Marzena, Sisodiya, Sanjay M, Campeau, Philippe M, Hennekam, Raoul C

المصدر: Aftimos , S , Banka , S , Begleiter , M L , Bilo , L , Blair , E , Burrage , L C , Liu , D S , De Bie , I , Félix , T M , Giltay , J C , Gibbs , R A , Giuliano , F , Hadzsiev , K , Hori , M , Kariminejad , A , Kayserili , H , Kerr , B , Lee , B H , Lu , J T , Male , A , Meenakshi , G , Mey , A , Murray , ....

مصطلحات موضوعية: DOOR syndrome, DOORS syndrome, SMARCB1, TBC1D24, deafness, genotype-phenotype correlation, intellectual disability, phenotype, seizures

الإتاحة: https://doi.org/10.1002/ajmg.c.31412Test
https://research.manchester.ac.uk/en/publications/81b4b332-7449-4445-96c6-5c551a9f98ebTest

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7

دورية أكاديمية

The genetic basis of DOORS syndrome: an exome-sequencing study

المؤلفون: De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L., Repetto, Gabriela M., Felix, Temis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D. V., Begleiter, Michael L., Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G., Bhaskar, Sanjeev S., Dickerson, Jonathan E., Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C., Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C., Gibbs, Richard A., Lee, Brendan H., Sisodiya, Sanjay M., Kayserili, Hülya, Stewart, Fiona, Campeau, Philippe M., Kasperaviciute, Dalia, Lu, James T., Burrage, Lindsay C., Kim, Choel, Hori, Mutsuki, Powell, Berkley R.

المساهمون: 31760

مصطلحات موضوعية: Dahili Tıp Bilimleri, Sağlık Bilimleri, Nöroloji, Klinik Tıp (MED), Tıp, KLİNİK NEUROLOJİ, Klinik Tıp

العلاقة: LANCET NEUROLOGY; Campeau P. M. , Kasperaviciute D., Lu J. T. , Burrage L. C. , Kim C., Hori M., Powell B. R. , Stewart F., Felix T. M. , van den Ende J., et al., "The genetic basis of DOORS syndrome: an exome-sequencing study", LANCET NEUROLOGY, cilt.13, ss.44-58, 2014; vv_1032021; av_d9eb31b4-d3f7-4fd0-b3f4-6fc51ef1a60d; http://hdl.handle.net/20.500.12627/143689Test; https://doi.org/10.1016/s1474-4422Test(13)70265-5; 13; 44; 58

الإتاحة: https://doi.org/20.500.12627/143689Test
https://doi.org/10.1016/s1474-4422Test(13)70265-5
https://hdl.handle.net/20.500.12627/143689Test

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