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Alkhunaizi, Ebba
28  results:
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1

Biallelic variants in TUBGCP6 result in microcephaly and ch..:

Thomas‐Wilson, Amanda ; Schacht, John P. ; Chitayat, David...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1935-1941 , 2023
Link: https://doi.org/10.1002/..
 
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2

45,X/46,XY mosaicism: Clinical manifestations and long term..:

Alkhunaizi, Ebba ; Albrecht, Jenna Plamondon ; Aarabi, Mahmoud...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

AGAP1-associated endolysosomal trafficking abnormalities li..:

Lewis, Sara A. ; Bakhtiari, Somayeh ; Forstrom, Jacob...
Disease Models & Mechanisms.  16 (2023)  9 - p. , 2023
Link: https://doi.org/10.1242/..
 
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4

Genotype–phenotype correlations and disease mechanisms in P..:

Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

eP071: 45,X/46,XY mosaicism: Retrospective study of 100 pat..:

Alkhunaizi, Ebba ; Plamondon, Jenna ; Aarabi, Mahmoud...
Genetics in Medicine.  24 (2022)  3 - p. S47-S48 , 2022
Link: https://doi.org/10.1016/..
 
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6

Semaphorin-Plexin Signaling: From Axonal Guidance to a New ..:

Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B....
Pediatric Neurology.  126 (2022)  - p. 65-73 , 2022
Link: https://doi.org/10.1016/..
 
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7

Fetal akinesia deformation sequence syndrome associated wit..:

Alkhunaizi, Ebba ; Martin, Nicole ; Jelin, Angie C....
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 760-769 , 2022
Link: https://doi.org/10.1002/..
 
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8

eP072: Disparities of racial and ethnic minorities in popul..:

Alkhunaizi, Ebba ; Sriharan, Abi ; Chitayat, David
Genetics in Medicine.  24 (2022)  3 - p. S48 , 2022
Link: https://doi.org/10.1016/..
 
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9

Variants in ATP6V0A1 cause progressive myoclonus epilepsy a..:

Bott, Laura C ; Forouhan, Mitra ; Lieto, Maria...
Brain Communications.  3 (2021)  4 - p. , 2021
Link: https://doi.org/10.1093/..
 
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10

Maternal SLE and brachytelephalangic chondrodysplasia punct..:

Alkhunaizi, Ebba ; Unger, Sharon ; Shannon, Patrick...
American Journal of Medical Genetics Part A.  182 (2020)  7 - p. 1807-1811 , 2020
Link: https://doi.org/10.1002/..
 
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11

Homozygous/compound heterozygote RYR1 gene variants: Expand..:

Alkhunaizi, Ebba ; Shuster, Shirley ; Shannon, Patrick...
American Journal of Medical Genetics Part A.  179 (2019)  3 - p. 386-396 , 2019
Link: https://doi.org/10.1002/..
 
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12

Maternally inherited MAF variant associated with variable e..:

Alkhunaizi, Ebba ; Koenekoop, Robert K. ; Saint‐Martin, Christine.
American Journal of Medical Genetics Part A.  179 (2019)  11 - p. 2233-2236 , 2019
Link: https://doi.org/10.1002/..
 
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13

Clinical characterization of a PUF60 variant in a patient w..:

Alkhunaizi, Ebba ; Braverman, Nancy
American Journal of Medical Genetics Part A.  179 (2018)  1 - p. 130-133 , 2018
Link: https://doi.org/10.1002/..
 
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14

Warsaw breakage syndrome: Further clinical and genetic deli..:

Alkhunaizi, Ebba ; Shaheen, Ranad ; Bharti, Sanjay Kumar...
American Journal of Medical Genetics Part A.  176 (2018)  11 - p. 2404-2418 , 2018
Link: https://doi.org/10.1002/..
 
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15

Novel 3q27.2‐qter deletion in a patient with Diamond–Blackf..:

Alkhunaizi, Ebba ; Schrewe, Brett ; Alizadehfar, Reza...
American Journal of Medical Genetics Part A.  173 (2017)  6 - p. 1514-1520 , 2017
Link: https://doi.org/10.1002/..
 
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