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Bozorgmehr, Bita
27
results:
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Online (27)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (10)
Sorted by: Relevance
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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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