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Results of search for 'au:"Mhanni, A A"'
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Authors
Booth, F
Chan, A
Chodirker, B N
Chudley, A E
Collison, M
Cross, H G
Dawson, A J
Del Bigio, M R
Deneau, M
Dubesky, C
El-Matary, W
Evans, J A
Greenberg, C R
Hartley, J N
Harward, E
Huynh, H Q
Kozenko, M
Krawitz, S
McGowan, R A
Mhanni, A A
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Topics
Abnormalities, Multiple
Adult
Animals
Bone and Bones
Child
Child, Preschool
Chromosome Aberrations
DNA Probes
Developmental Disabilities
Face
Female
Genes, Dominant
Genetic Testing
Humans
Infant, Newborn
Intellectual Disability
Male
Syndrome
diagnosis
genetics
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English
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Your search returned 13 results.
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1.
Genetic landmarks through philately--Kabuki theater and Kabuki syndrome.
[electronic resource]
by
Mhanni, A A
Chudley, A E
Producer:
19991103
In:
Clinical genetics
vol. 56
Online resources:
Available from publisher's website
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No items available.
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2.
Global changes in genomic methylation levels during early development of the zebrafish embryo.
[electronic resource]
by
Mhanni, A A
McGowan, R A
Producer:
20050421
In:
Development genes and evolution
vol. 214
Online resources:
Available from publisher's website
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3.
Genetic testing of children at risk for adult onset conditions: when is testing indicated?
[electronic resource]
by
Lwiwski, N
Greenberg, C R
Mhanni, A A
Producer:
20090302
In:
Journal of genetic counseling
vol. 17
Online resources:
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4.
Vertical transmission of the Ohdo blepharophimosis syndrome.
[electronic resource]
by
Mhanni, A A
Dawson, A J
Chudley, A E
Producer:
19980624
In:
American journal of medical genetics
vol. 77
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No items available.
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5.
Kabuki syndrome: description of dental findings in 8 patients.
[electronic resource]
by
Mhanni, A A
Cross, H G
Chudley, A E
Producer:
19991103
In:
Clinical genetics
vol. 56
Online resources:
Available from publisher's website
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6.
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.
[electronic resource]
by
Levesque, L
Del Bigio, M R
Krawitz, S
Mhanni, A A
Producer:
20130815
In:
Neuromuscular disorders : NMD
vol. 23
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7.
Cloning and sequence analysis of a zebrafish cDNA encoding DNA (cytosine-5)-methyltransferase-1.
[electronic resource]
by
Mhanni, A A
Yoder, J A
Dubesky, C
McGowan, R A
Producer:
20011204
In:
Genesis (New York, N.Y. : 2000)
vol. 30
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8.
Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population.
[electronic resource]
by
Mhanni, A A
Hartley, J N
Harward, E
Spriggs, E
Booth, F
Publication details:
Clinical genetics
Apr 2016
In:
Clinical genetics
vol. 89
Online resources:
Available from publisher's website
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9.
Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.
[electronic resource]
by
Mhanni, A A
Hartley, J N
Sanger, W G
Chudley, A E
Spriggs, E L
Producer:
20120730
In:
Seizure
vol. 20
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10.
Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease.
[electronic resource]
by
Mhanni, A A
Kozenko, M
Hartley, J N
Deneau, M
El-Matary, W
Rockman-Greenberg, C
Producer:
20160325
In:
Molecular genetics and metabolism reports
vol. 6
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11.
Fetal hepatic haemangioendothelioma: a new association with elevated maternal serum alpha-fetoprotein.
[electronic resource]
by
Mhanni, A A
Chodirker, B N
Evans, J A
Menticouglou, S
Wiseman, N
MacDonald, N
Chudley, A E
Producer:
20000630
In:
Prenatal diagnosis
vol. 20
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12.
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure.
[electronic resource]
by
Mhanni, A A
Chan, A
Collison, M
Seifert, B
Lehotay, D C
Sokoro, Ah
Huynh, H Q
Greenberg, C R
Producer:
20080509
In:
Journal of pediatric gastroenterology and nutrition
vol. 46
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13.
Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features.
[electronic resource]
by
Dawson, A J
Putnam, S
Schultz, J
Riordan, D
Prasad, C
Greenberg, C R
Chodirker, B N
Mhanni, A A
Chudley, A E
Producer:
20031104
In:
Clinical genetics
vol. 62
Online resources:
Available from publisher's website
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