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Corbani, Sandra
29  results:
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1

A Homozygous Splicing Mutation in PDE2A in a Family With At..:

Haidar, Zahraa ; Jalkh, Nadine ; Corbani, Sandra...
Movement Disorders.  35 (2020)  5 - p. 896-899 , 2020
Link: https://doi.org/10.1002/..
 
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2

A homozygous stop gain mutation inBOD1gene in a Lebanese pa..:

Hamdan, Nadine ; Mehawej, Cybel ; Sebaaly, Ghada...
Clinical Genetics.  98 (2020)  3 - p. 288-292 , 2020
Link: https://doi.org/10.1111/..
 
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3

The added value of WES reanalysis in the field of genetic d..:

Jalkh, Nadine ; Corbani, Sandra ; Haidar, Zahraa...
BMC Medical Genomics.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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4

First molecular study in Lebanese patients with Cockayne sy..:

Chebly, Alain ; Corbani, Sandra ; Abou Ghoch, Joelle...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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5

Atypical pyridoxine dependent epilepsy resulting from a new..:

Haidar, Zahraa ; Jalkh, Nadine ; Corbani, Sandra...
Seizure.  57 (2018)  - p. 32-33 , 2018
Link: https://doi.org/10.1016/..
 
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6

Progressive pseudorheumatoid dysplasia in North and West Af..:

Chouery, Eliane ; Corbani, Sandra ; Dahmen, Jaleleddine...
Egyptian Journal of Medical Human Genetics.  18 (2017)  3 - p. 299-303 , 2017
Link: https://doi.org/10.1016/..
 
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7

Contribution of copy number variants (CNVs) to congenital, ..:

Choucair, Nancy ; Ghoch, Joelle Abou ; Corbani, Sandra...
Molecular Cytogenetics.  8 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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8

N1303K (c.3909C>G) Mutation and Splicing: Implication of It..:

Farhat, Raëd ; Puissesseau, Géraldine ; El-Seedy, Ayman...
BioMed Research International.  2015 (2015)  - p. 1-8 , 2015
Link: https://doi.org/10.1155/..
 
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9

Ambiguous genitalia, microcephaly, seizures, bone malformat..:

Mégarbané, André ; Chouery, Eliane ; Mignon‐Ravix, Cécile...
American Journal of Medical Genetics Part A.  155 (2011)  5 - p. 1147-1151 , 2011
Link: https://doi.org/10.1002/..
 
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10

The molecular basis of familial hypercholesterolemia in Leb..:

Abifadel, Marianne ; Rabès, Jean-Pierre ; Jambart, Sélim...
Human Mutation.  30 (2009)  7 - p. E682-E691 , 2009
Link: https://doi.org/10.1002/..
 
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11

Erratum: Corrigendum: BBS10 encodes a vertebrate-specific c..:

Stoetzel, Corinne ; Laurier, Virginie ; Davis, Erica E...
Nature Genetics.  38 (2006)  6 - p. 727-727 , 2006
Link: https://doi.org/10.1038/..
 
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12

BBS10 encodes a vertebrate-specific chaperonin-like protein..:

Stoetzel, Corinne ; Laurier, Virginie ; Davis, Erica E...
Nature Genetics.  38 (2006)  5 - p. 521-524 , 2006
Link: https://doi.org/10.1038/..
 
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13

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin..:

Stoetzel, Corinne ; Laurier, Virginie ; Davis, Erica E...
Nature Genetics.  38 (2006)  6 - p. 727-727 , 2006
Link: https://doi.org/10.1038/..
 
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14

Molecular study of WISP3 in nine families originating from ..:

Delague, Valérie ; Chouery, Eliane ; Corbani, Sandra...
American Journal of Medical Genetics Part A.  138A (2005)  2 - p. 118-126 , 2005
Link: https://doi.org/10.1002/..
 
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15

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a..:

Medlej-Hashim, Myrna ; Serre, Jean-Louis ; Corbani, Sandra...
European Journal of Medical Genetics.  48 (2005)  4 - p. 412-420 , 2005
Link: https://doi.org/10.1016/..
 
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