نتائج البحث - "Ionasescu V"

1

Academic Journal

Fine mapping of de novo CMT1A and HNPP rearrangements within CMTIA-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

المؤلفون: Lopes, J., Ravise, N., Vandenberghe, A., Palau, F., Ionasescu, V., Mayer, M., Levy, N., Wood, N., Tachi, N., Bouche, P., Latour, P., Ruberg, M., Brice, A., LeGuern, E.

المصدر: Human Molecular Genetics ; volume 7, issue 1, page 141-148 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الاتاحة: http://dx.doi.org/10.1093/hmg/7.1.141
http://academic.oup.com/hmg/article-pdf/7/1/141/1790807/7-1-141.pdf

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2

Academic Journal

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

المؤلفون: Ionasescu, V V, Searby, C, Greenberg, S A

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/12/1048; http://dx.doi.org/10.1136/jmg.33.12.1048

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/12/1048
https://doi.org/10.1136/jmg.33.12.1048

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3

Academic Journal

Screening Of The Newborn For Duchenne Muscular Dystrophy

المؤلفون: Zellweger, H., Ionasescu, V., Simpson, J., Waziri, M., Antonik, A.

المصدر: The British Medical Journal, 1975 Sep . 3(5986), 767-767.

URL الوصول: https://www.jstor.org/stable/20406976

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4

Academic Journal

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

المؤلفون: McLaughlin, H, Sakaguchi, R, Liu, C, Igarashi, T, Pehlivan, D, Chu, K, Iyer, R, Cruz, P, Cherukuri, P, Hansen, N, Mullikin, J, Biesecker, L, Wilson, T, Ionasescu, V, Nicholson, G, Searby, C, Talbot, K, Vance, J, Züchner, S, Szigeti, K, Lupski, JR, Hou, Y, Green, E, Antonellis, A

Relation: https://ora.ox.ac.uk/objects/uuid:a3b27acb-94e4-4473-9f91-9a3c9f308cf2; https://doi.org/10.1016/j.ajhg.2010.09.008

الاتاحة: https://doi.org/10.1016/j.ajhg.2010.09.008
https://ora.ox.ac.uk/objects/uuid:a3b27acb-94e4-4473-9f91-9a3c9f308cf2

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5

Academic Journal

Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.

المؤلفون: Fischbeck, K, Ritter, A, Tirschwell, D, Kunkel, L, Bertelson, C, Monaco, A, Hejtmancik, J, Boehm, C, Ionasescu, V, Ionasescu, R

Relation: https://ora.ox.ac.uk/objects/uuid:942650ea-57d8-4fdd-8bc9-db1e1986dbd3; https://doi.org/10.1016/s0140-6736(86)91634-x

الاتاحة: https://doi.org/10.1016/s0140-6736(86)91634-x
https://ora.ox.ac.uk/objects/uuid:942650ea-57d8-4fdd-8bc9-db1e1986dbd3

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6

Academic Journal

Distinction between Duchenne and other muscular dystrophies by ribosomal protein synthesis.

المؤلفون: Ionasescu, V

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/12/1/49; http://dx.doi.org/10.1136/jmg.12.1.49

الاتاحة: http://jmg.bmj.com/cgi/content/short/12/1/49
https://doi.org/10.1136/jmg.12.1.49

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7

Academic Journal

Letter: Screening of the newborn for duchenne muscular dystrophy.

المؤلفون: Zellweger, H, Ionasescu, V, Simpson, J, Waziri, M, Antinik, A

مصطلحات موضوعية: RESEARCH ARTICLE

وصف الملف: text/html

Relation: http://www.bmj.com/cgi/content/short/3/5986/767; http://dx.doi.org/10.1136/bmj.3.5986.767

الاتاحة: http://www.bmj.com/cgi/content/short/3/5986/767
https://doi.org/10.1136/bmj.3.5986.767

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8

Academic Journal

Giant axonal neuropathy: normal protein composition of neurofilaments.

المؤلفون: Ionasescu, V, Searby, C, Rubenstein, P, Sandra, A, Cancilla, P, Robillard, J

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/46/6/551; http://dx.doi.org/10.1136/jnnp.46.6.551

الاتاحة: http://jnnp.bmj.com/cgi/content/short/46/6/551
https://doi.org/10.1136/jnnp.46.6.551

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9

Academic Journal

Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.

المؤلفون: Ionasescu, V, Hug, G, Hoppel, C

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/43/8/679; http://dx.doi.org/10.1136/jnnp.43.8.679

الاتاحة: http://jnnp.bmj.com/cgi/content/short/43/8/679
https://doi.org/10.1136/jnnp.43.8.679

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10

Academic Journal

High resolution gene mapping of the human alpha globin locus.

المؤلفون: Nicholls, R D, Jonasson, J A, McGee, J O, Patil, S, Ionasescu, V V, Weatherall, D J, Higgs, D R

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/24/1/39; http://dx.doi.org/10.1136/jmg.24.1.39

الاتاحة: http://jmg.bmj.com/cgi/content/short/24/1/39
https://doi.org/10.1136/jmg.24.1.39

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11

Academic Journal

Carrier detection in Duchenne muscular dystrophy

المؤلفون: Bucher, K D, Ionasescu, V V

مصطلحات موضوعية: Correspondence

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/55/5/413-b; http://dx.doi.org/10.1136/adc.55.5.413-b

الاتاحة: http://adc.bmj.com/cgi/content/short/55/5/413-b
https://doi.org/10.1136/adc.55.5.413-b

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12

Academic Journal

Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy

المؤلفون: Davies, K.E., Briand, P., Ionasescu, V., Ionasescu, G., Wilhiamson, R., Brown, C., Cavard, C., Cathelineau, L.

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://nar.oxfordjournals.org/cgi/content/short/13/1/155; http://dx.doi.org/10.1093/nar/13.1.155

الاتاحة: http://nar.oxfordjournals.org/cgi/content/short/13/1/155
https://doi.org/10.1093/nar/13.1.155

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13

Academic Journal

Frequency of cerebral infarction in patients with inherited neuromuscular diseases.

المؤلفون: Biller, J, Ionasescu, V, Zellweger, H, Adams, H P, Schultz, D T

المصدر: Stroke ; volume 18, issue 4, page 805-807 ; ISSN 0039-2499 1524-4628

الاتاحة: http://dx.doi.org/10.1161/01.str.18.4.805
https://www.ahajournals.org/doi/pdf/10.1161/01.STR.18.4.805

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14

Academic Journal

Cardiac manifestations of the mucopolysaccharidoses.

المؤلفون: Schieken, R M, Kerber, R E, Ionasescu, V V, Zellweger, H

المصدر: Circulation ; volume 52, issue 4, page 700-705 ; ISSN 0009-7322 1524-4539

الاتاحة: http://dx.doi.org/10.1161/01.cir.52.4.700
https://www.ahajournals.org/doi/pdf/10.1161/01.CIR.52.4.700

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15

Academic Journal

Muscle ribosomal protein synthesis in normal pregnancy: implication for carrier detection in Duchenne muscular dystrophy

المؤلفون: Ionasescu, V., White, C., Zellweger, H., Lewis, R., Conway, T. W.

المصدر: Journal of Medical Genetics ; volume 11, issue 2, page 114-116 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.11.2.114
https://syndication.highwire.org/content/doi/10.1136/jmg.11.2.114

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16

Academic Journal

A CASE OF `PURE' WORD BLINDNESS

المؤلفون: Kreindler, A., Ionasescu, V.

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 24, issue 3, page 275-280 ; ISSN 0022-3050

الاتاحة: http://dx.doi.org/10.1136/jnnp.24.3.275
https://syndication.highwire.org/content/doi/10.1136/jnnp.24.3.275

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17

Academic Journal

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)

المؤلفون: Ionasescu, V

المصدر: Human Molecular Genetics ; volume 5, issue 9, page 1373-1375 ; ISSN 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/5.9.1373
http://academic.oup.com/hmg/article-pdf/5/9/1373/1667628/5-9-1373.pdf

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18

Academic Journal

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

المؤلفون: Ionasescu, V. V., Searby, Ch., Ionasescu, R., Neuhaus, I. M., Werner, R.

المصدر: Neurology ; volume 47, issue 2, page 541-544 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.47.2.541
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.47.2.541

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19

Academic Journal

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

المؤلفون: Ionasescu, V. V., Ionasescu, R., Searby, Ch., Neahring, R.

المصدر: Neurology ; volume 45, issue 9, page 1766-1767 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.45.9.1766
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.45.9.1766

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20

Academic Journal

New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

المؤلفون: Ionasescu, V., Searby, Ch, Ionasescu, R., Meschino, W.

المصدر: Neuromuscular Disorders ; volume 5, issue 4, page 297-299 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/0960-8966(94)00077-m
https://api.elsevier.com/content/article/PII:096089669400077M?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:096089669400077M?httpAccept=text/plain

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