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Bertoli‐Avella, Aida M.
~ 100  Ergebnisse:
Personensuche X
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1

The clinical and genetic landscape of developmental and epi..:

Elkhateeb, Nour ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Clinical Genetics.  105 (2024)  5 - p. 510-522 , 2024
Link: https://doi.org/10.1111/..
 
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2

Expanding the allelic spectrum of ELOVL4‐related autosomal ..:

Alabdulrazzaq, Fatima ; Alanzi, Talal ; Al‐Balool, Haya H....
Molecular Genetics & Genomic Medicine.  11 (2023)  12 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

Adding to the evidence of gene‐disease association of RAP1B..:

Pardo, Luba M. ; Aanicai, Ruxandra ; Zonic, Emir...
Clinical Genetics.  105 (2023)  2 - p. 196-201 , 2023
Link: https://doi.org/10.1111/..
 
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4

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and ..:

Westenberger, Ana ; Ruiz‐Herrera, Adriana ; Bozdoğan, Sevcan...
Movement Disorders.  38 (2023)  3 - p. 502-504 , 2023
Link: https://doi.org/10.1002/..
 
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5

PI4K2A deficiency causes innate error in intracellular traf..:

Dafsari, Hormos Salimi ; Pemberton, Joshua G. ; Ferrer, Elizabeth A....
Annals of Clinical and Translational Neurology.  9 (2022)  9 - p. 1345-1358 , 2022
Link: https://doi.org/10.1002/..
 
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6

HIDEA syndrome is caused by biallelic, pathogenic, rare or ..:

Kraatari‐Tiri, Minna ; Soikkonen, Leila ; Myllykoski, Matti...
Clinical Genetics.  102 (2022)  5 - p. 444-450 , 2022
Link: https://doi.org/10.1111/..
 
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7

Biallelic loss‐of‐function HACD1 variants are a bona fide c..:

Abbasi‐Moheb, Lia ; Westenberger, Ana ; Alotaibi, Maha...
Clinical Genetics.  99 (2021)  4 - p. 513-518 , 2021
Link: https://doi.org/10.1111/..
 
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8

Biallelic ZNFX1 variants are associated with a spectrum of ..:

Alawbathani, Salem ; Westenberger, Ana ; Ordonez‐Herrera, Natalia...
Clinical Genetics.  101 (2021)  2 - p. 247-254 , 2021
Link: https://doi.org/10.1111/..
 
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9

Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syn..:

Seto, Mimi Tin‐Yan ; Bertoli‐Avella, Aida M. ; Cheung, Ka Wang...
American Journal of Medical Genetics Part A.  185 (2020)  2 - p. 384-389 , 2020
Link: https://doi.org/10.1002/..
 
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10

ADAMTS19‐associated heart valve defects: Novel genetic vari..:

Massadeh, Salam ; Alhashem, Amal ; van de Laar, Ingrid M.B.H....
Clinical Genetics.  98 (2020)  1 - p. 56-63 , 2020
Link: https://doi.org/10.1111/..
 
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11

An X‐linked syndrome with severe neurodevelopmental delay, ..:

Tripolszki, Kornelia ; Sasaki, Erina ; Hotakainen, Ronja...
Clinical Genetics.  99 (2020)  2 - p. 303-308 , 2020
Link: https://doi.org/10.1111/..
 
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12

A homozygous frameshift variant in an alternatively spliced..:

Yüksel, Zafer ; Vogel, Florian ; Alhashem, Amal M....
Clinical Genetics.  95 (2019)  5 - p. 631-633 , 2019
Link: https://doi.org/10.1111/..
 
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13

Familial Ehlers‐Danlos syndrome with lethal arterial events..:

Monroe, Glen R ; Harakalova, Magdalena ; van der Crabben, Saskia N...
American Journal of Medical Genetics Part A.  167 (2015)  6 - p. 1196-1203 , 2015
Link: https://doi.org/10.1002/..
 
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14

Novel parkin mutations detected in patients with early‐onse..:

Bertoli‐Avella, Aida M. ; Giroud‐Benitez, José L. ; Akyol, Ali...
Movement Disorders.  20 (2004)  4 - p. 424-431 , 2004
Link: https://doi.org/10.1002/..
 
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15

Suggestive linkage to chromosome 19 in a large Cuban family..:

Bertoli‐Avella, Aida M. ; Giroud‐Benitez, Jose L. ; Bonifati, Vincenzo...
Movement Disorders.  18 (2003)  11 - p. 1240-1249 , 2003
Link: https://doi.org/10.1002/..
 
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