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Andrew K. Sobering
87
results:
Search for persons
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Online (87)
Mediatypes
Articles (Online) (51)
OpenAccess-fulltext (36)
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1
Expanding the clinical phenotype and variant spectrum assoc..:
Sisroe, Talia
;
Santos, Attila Dos
;
Rippert, Alyssa L.
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
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2
DNA methylation episignature, extension of the clinical fea..:
van der Laan, Liselot
;
Karimi, Karim
;
Rooney, Kathleen
...
Genetics in Medicine. 26 (2024) 3 - p. 101050 , 2024
Link:
https://doi.org/10.1016/..
?
3
Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:
Sobering, Andrew K.
;
Bryant, Laura M.
;
Li, Dong
...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100168 , 2023
Link:
https://doi.org/10.1016/..
?
4
Cover:
Maj, Mary
;
Taylor, Christie L.
;
Landau, Kevin
...
Molecular Genetics & Genomic Medicine. 11 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1002/..
?
5
Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:
Sobering, Andrew K.
;
Bryant, Laura M.
;
Li, Dong
...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100102 , 2022
Link:
https://doi.org/10.1016/..
?
6
A novel unbalanced translocation between chromosomes 5p and..:
Verdi, Giavanna
;
Li, Dong
;
Elsea, Sarah H.
...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1002/..
?
7
2022 Association of Professors of Human and Medical Genetic..:
Massingham, Lauren J.
;
Nuñez, Sabrina
;
Bernstein, Jonathan A.
...
Genetics in Medicine. 24 (2022) 10 - p. 2167-2179 , 2022
Link:
https://doi.org/10.1016/..
?
8
A novel SYNJ1 homozygous variant causing developmental and ..:
Maj, Mary
;
Taylor, Christie L.
;
Landau, Kevin
...
Molecular Genetics & Genomic Medicine. 11 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1002/..
?
9
Cover:
Verdi, Giavanna
;
Li, Dong
;
Elsea, Sarah H.
...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1002/..
?
10
Teaching perspectives on the communication of difficult new..:
Vanasse, Ashley M.
;
Weiler, Tracey
;
Roth, Elizabeth A.
...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 299-305 , 2022
Link:
https://doi.org/10.1002/..
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11
Cover:
Grygiel, Alyssa
;
Ikolo, Felicia
;
Stephen, Raphielle
...
Molecular Genetics & Genomic Medicine. 9 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1002/..
?
12
ALG13 X‐linked intellectual disability: New variants, glyco..:
Alsharhan, Hind
;
He, Miao
;
Edmondson, Andrew C.
...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 1001-1012 , 2021
Link:
https://doi.org/10.1002/..
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13
Towards the optimal use of video recordings to support the ..:
Bordes, Stephen J.
;
Walker, Donna
;
Modica, Louis Jonathan
..
Medical Education Online. 26 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1080/..
?
14
A homozygous truncatingNALCNvariant in twoAfro‐Caribbeansib..:
Ope, Omotayo
;
Bhoj, Elizabeth J.
;
Nelson, Beverly
...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1877-1880 , 2020
Link:
https://doi.org/10.1002/..
?
15
Down syndrome on a small Caribbean island: an uphill battle..:
Nelson, Beverly
;
Lanza‐Perea, Marta
;
Brathwaite, Jozan
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2020) 4 - p. 965-969 , 2020
Link:
https://doi.org/10.1002/..
1-15