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Bialer, Martin G.
99  Ergebnisse:
Personensuche X
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1

Prenatal sonographic findings in a case of Wolman's disease:

Blitz, Matthew J. ; Rochelson, Burton ; Sood, Monica..
Journal of Clinical Ultrasound.  46 (2017)  1 - p. 66-68 , 2017
Link: https://doi.org/10.1002/..
 
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2

High Incidence of Noonan Syndrome Features Including Short ..:

Rojnueangnit, Kitiwan ; Xie, Jing ; Gomes, Alicia...
Human Mutation.  36 (2015)  11 - p. 1052-1063 , 2015
Link: https://doi.org/10.1002/..
 
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3

PDE3A mutations cause autosomal dominant hypertension with ..:

Maass, Philipp G ; Aydin, Atakan ; Luft, Friedrich C...
Nature Genetics.  47 (2015)  6 - p. 647-653 , 2015
Link: https://doi.org/10.1038/..
 
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4

Cholesteryl ester storage disease is associated with progre..:

Bernstein, Donna L. ; Edelman, Morris ; Alexis, Claudine...
Molecular Genetics and Metabolism.  111 (2014)  2 - p. S25-S26 , 2014
Link: https://doi.org/10.1016/..
 
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5

Cholesteryl ester storage disease: Review of the findings i..:

Bernstein, Donna L. ; Hülkova, Helena ; Bialer, Martin G..
Journal of Hepatology.  58 (2013)  6 - p. 1230-1243 , 2013
Link: https://doi.org/10.1016/..
 
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6

Duane syndrome in association with 48,XXYY karyotype:

Weis, Adina ; Bialer, Martin G. ; Kodsi, Sylvia
Journal of American Association for Pediatric Ophthalmology and Strabismus.  15 (2011)  3 - p. 295-296 , 2011
Link: https://doi.org/10.1016/..
 
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7

Pompe disease: Dramatic improvement in gastrointestinal fun..:

Bernstein, Donna L. ; Bialer, Martin G. ; Mehta, Lakshmi.
Molecular Genetics and Metabolism.  101 (2010)  2-3 - p. 130-133 , 2010
Link: https://doi.org/10.1016/..
 
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8

Hypophosphatasia: molecular testing of 19 prenatal cases an..:

Simon-Bouy, Brigitte ; Taillandier, Agnès ; Fauvert, Delphine...
Prenatal Diagnosis.  28 (2008)  11 - p. 993-998 , 2008
Link: https://doi.org/10.1002/..
 
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9

Mutations in the gene encoding filamin B disrupt vertebral ..:

Krakow, Deborah ; Robertson, Stephen P ; King, Lily M...
Nature Genetics.  36 (2004)  4 - p. 405-410 , 2004
Link: https://doi.org/10.1038/..
 
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10

Stroke in Children: Genetic and Metabolic Issues:

Pavlakis, Steven G. ; Kingsley, Peter B. ; Bialer, Martin G.
Journal of Child Neurology.  15 (2000)  5 - p. 308-315 , 2000
Link: https://doi.org/10.1177/..
 
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11

Mosaic trisomy 16 ascertained through amniocentesis: Evalua..:

Hsu, Wei-Tong ; Shchepin, Dmitriy A. ; Mao, Rong...
American Journal of Medical Genetics.  80 (1998)  5 - p. 473-480 , 1998
Link: https://doi.org/10.1002/..
 
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12

Inherited duplication Xq27-qter at Xp22.3 in severely affec..:

Goodman, Barbara K. ; Shaffer, Lisa G. ; Rutberg, Julie...
American Journal of Medical Genetics.  80 (1998)  4 - p. 377-384 , 1998
Link: https://doi.org/10.1002/..
 
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13

Prenatal diagnosis of thrombocytopenia in TAR syndrome:

Bialer, Martin G.
Prenatal Diagnosis.  14 (1994)  1 - p. 74-75 , 1994
Link: https://doi.org/10.1002/..
 
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14

Postnatal confirmation of prenatally diagnosed trisomy 16 m..:

Pletcher, Beth A. ; Sanz, Maureen M. ; Schlessel, Jerrold S....
Prenatal Diagnosis.  14 (1994)  10 - p. 933-940 , 1994
Link: https://doi.org/10.1002/..
 
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15

Allan‐herndon‐dudley syndrome: Clinical and linkage studies..:

Bialer, Martin G. ; Lawrence, Laura ; Stevenson, Roger E....
American Journal of Medical Genetics.  43 (1992)  1-2 - p. 491-497 , 1992
Link: https://doi.org/10.1002/..
 
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