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Li, Chumei
120  results:
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1

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
Brain.  146 (2023)  8 - p. 3273-3288 , 2023
Link: https://doi.org/10.1093/..
 
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2

Correspondence: Perspectives on the future of dysmorphology:

Li, Chumei
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2252-2253 , 2023
Link: https://doi.org/10.1002/..
 
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3

Further characterization of the 9q31 microdeletion phenotyp..:

Brady, Lauren ; Ballantyne, Mark ; Duck, John...
Molecular Genetics & Genomic Medicine.  11 (2022)  3 - p. , 2022
Link: https://doi.org/10.1002/..
 
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4

Hesperetin Nanoparticle Targeting Neutrophils for Enhanced ..:

Yao, Kai ; Mu, Qingchun ; Zhang, Yufei...
Advanced Functional Materials.  32 (2022)  43 - p. , 2022
Link: https://doi.org/10.1002/..
 
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5

Hesperetin Nanoparticle Targeting Neutrophils for Enhanced ..:

Yao, Kai ; Mu, Qingchun ; Zhang, Yufei...
Advanced Functional Materials.  32 (2022)  43 - p. , 2022
Link: https://doi.org/10.1002/..
 
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6

TSPEAR variants are primarily associated with ectodermal dy..:

Bowles, Bradley ; Ferrer, Alejandro ; Nishimura, Carla J....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2417-2433 , 2021
Link: https://doi.org/10.1002/..
 
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7

Mutations in FAM50A suggest that Armfield XLID syndrome is ..:

Lee, Yu-Ri ; Khan, Kamal ; Armfield-Uhas, Kim...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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8

MN1 C-terminal truncation syndrome is a novel neurodevelopm..:

Mak, Christopher C Y ; Doherty, Dan ; Lin, Angela E...
Brain.  143 (2019)  1 - p. 55-68 , 2019
Link: https://doi.org/10.1093/..
 
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9

Natural history and genotype‐phenotype correlations in 72 i..:

Zarate, Yuri A. ; Smith‐Hicks, Constance L. ; Greene, Carol...
American Journal of Medical Genetics Part A.  176 (2018)  4 - p. 925-935 , 2018
Link: https://doi.org/10.1002/..
 
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10

Cover Image, Volume 176A, Number 4, April 2018:

Zarate, Yuri A. ; Smith‐Hicks, Constance L. ; Greene, Carol...
American Journal of Medical Genetics Part A.  176 (2018)  4 - p. , 2018
Link: https://doi.org/10.1002/..
 
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11

Mutations That Alter the Carboxy-Terminal-Propeptide Cleava..:

Cundy, Tim ; Dray, Michael ; Delahunt, John...
Journal of Bone and Mineral Research.  33 (2018)  7 - p. 1260-1271 , 2018
Link: https://doi.org/10.1002/..
 
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12

Normal IQ is possible in Smith‐Lemli‐Opitz syndrome:

Eroglu, Yasemen ; Nguyen‐Driver, Mina ; Steiner, Robert D....
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2097-2100 , 2017
Link: https://doi.org/10.1002/..
 
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13

Molecular characterization of NRXN1 deletions from 19,263 c..:

Lowther, Chelsea ; Speevak, Marsha ; Armour, Christine M....
Genetics in Medicine.  19 (2017)  1 - p. 53-61 , 2017
Link: https://doi.org/10.1038/..
 
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14

Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a..:

Li, Chumei ; Wang, Yongdong ; Szybowska, Marta
American Journal of Medical Genetics Part A.  173 (2017)  7 - p. 1994-1995 , 2017
Link: https://doi.org/10.1002/..
 
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15

Utility of Genomic Methylation Microarrays to Measure Sprea..:

McCready, Elizabeth ; Grafodatskaya, Daria ; Schenkel, Laila...
Cancer Genetics.  209 (2016)  6 - p. 299 , 2016
Link: https://doi.org/10.1016/..
 
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