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Bita Bozorgmehr
27  results:
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1

Clinical application of next generation sequencing for Mend..:

Abolhassani, Ayda ; Fattahi, Zohreh ; Beheshtian, Maryam...
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

P604: Diagnostic utility of NGS testing in a highly consang..:

Abolhassani, Ayda ; Fattahi, Zohreh ; Beheshtian, Maryam...
Genetics in Medicine Open.  2 (2024)  - p. 101510 , 2024
Link: https://doi.org/10.1016/..
 
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3

TH11. AUTISM SPECTRUM DISORDER TRIOS FROM CONSANGUINEOUS PO..:

Harripaul, Ricardo ; Rabia, Ansa ; Vasli, Nasim...
European Neuropsychopharmacology.  51 (2021)  - p. e200 , 2021
Link: https://doi.org/10.1016/..
 
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4

WHOLE EXOME TRIO SEQUENCING IDENTIFIES NOVEL VARIANTS FOR A..:

Harripaul, Ricardo ; Vasli, Nasim ; Rodrigues, Ashlyn...
European Neuropsychopharmacology.  29 (2019)  - p. S829-S830 , 2019
Link: https://doi.org/10.1016/..
 
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5

Novel mutations and a severe neurological phenotype in Sjög..:

Kariminejad, Ariana ; Barzgar, Mohammadreza ; Bozorgmehr, Bita...
European Journal of Medical Genetics.  61 (2018)  3 - p. 139-144 , 2018
Link: https://doi.org/10.1016/..
 
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6

Discriminative Features in Three Autosomal Recessive Cutis ..:

Kariminejad, Ariana ; Afroozan, Fariba ; Bozorgmehr, Bita...
International Journal of Molecular Sciences.  18 (2017)  3 - p. 635 , 2017
Link: https://doi.org/10.3390/..
 
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7

Brief Report: Peripheral Osteolysis in Adults Linked to ASA..:

Bonafé, Luisa ; Kariminejad, Ariana ; Li, Jia...
Arthritis & Rheumatology.  68 (2016)  9 - p. 2323-2327 , 2016
Link: https://doi.org/10.1002/..
 
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8

Kaufman oculo-cerebro-facial syndrome in a child with small..:

Kariminejad, Ariana ; Ajeawung, Norbert Fonya ; Bozorgmehr, Bita...
Journal of Human Genetics.  62 (2016)  4 - p. 465-471 , 2016
Link: https://doi.org/10.1038/..
 
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9

Eight novel mutations in MLC1 from 18 Iranian patients with..:

Kariminejad, Ariana ; Rajaee, Ahmad ; Ashrafi, Mahmoud Reza...
European Journal of Medical Genetics.  58 (2015)  2 - p. 71-74 , 2015
Link: https://doi.org/10.1016/..
 
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10

Skull defects, alopecia, hypertelorism, and notched alae na..:

Kariminejad, Ariana ; Bozorgmehr, Bita ; Alizadeh, Houman...
American Journal of Medical Genetics Part A.  164 (2014)  5 - p. 1322-1327 , 2014
Link: https://doi.org/10.1002/..
 
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11

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscul..:

Senderek, Jan ; Müller, Juliane S. ; Dusl, Marina...
The American Journal of Human Genetics.  88 (2011)  2 - p. 162-172 , 2011
Link: https://doi.org/10.1016/..
 
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12

Congenital myasthenic syndrome with tubular aggregates caus..:

Guergueltcheva, Velina ; Müller, Juliane S. ; Dusl, Marina...
Journal of Neurology.  259 (2011)  5 - p. 838-850 , 2011
Link: https://doi.org/10.1007/..
 
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13

Defect in proline synthesis: pyrroline‐5‐carboxylate reduct..:

Kretz, Rita ; Bozorgmehr, Bita ; Kariminejad, Mohamad Hasan...
Journal of Inherited Metabolic Disease.  34 (2011)  3 - p. 731-739 , 2011
Link: https://doi.org/10.1007/..
 
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14

Clinical variability in acro‐cardio‐facial‐syndrome:

Kariminejad, Ariana ; Bozorgmehr, Bita ; Sedighi Gilani, Mohammad Ali..
American Journal of Medical Genetics Part A.  146A (2008)  15 - p. 1977-1979 , 2008
Link: https://doi.org/10.1002/..
 
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15

Johanson–Blizzard syndrome caused by identicalUBR1mutations..:

Elting, Mariet ; Kariminejad, Ariana ; de Sonnaville, Marie‐Louise...
American Journal of Medical Genetics Part A.  146A (2008)  23 - p. 3058-3061 , 2008
Link: https://doi.org/10.1002/..
 
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