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Roessler, Erich
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1

Cover, Volume 41, Issue 12:

Nagai‐Tanima, Momoko ; Hong, Sungkook ; Hu, Ping...
Human Mutation.  41 (2020)  12 - p. , 2020
Link: https://doi.org/10.1002/..
 
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2

Rare hypomorphic human variation in the heptahelical domain..:

Nagai‐Tanima, Momoko ; Hong, Sungkook ; Hu, Ping...
Human Mutation.  41 (2020)  12 - p. 2105-2118 , 2020
Link: https://doi.org/10.1002/..
 
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3

Functional analysis ofSonic Hedgehogvariants associated wit..:

Hong, Sungkook ; Hu, Ping ; Jang, Jae Hee...
Human Mutation.  41 (2020)  12 - p. 2155-2166 , 2020
Link: https://doi.org/10.1002/..
 
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4

Low-level parental mosaicism affects the recurrence risk of..:

Hu, Ping ; Martinez, Ariel F. ; Kruszka, Paul...
Genetics in Medicine.  21 (2019)  4 - p. 1015-1020 , 2019
Link: https://doi.org/10.1038/..
 
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5

Clinical and Demographic Evaluation of a Holoprosencephaly ..:

Abe, Yu ; Kruszka, Paul ; Martinez, Ariel F....
The Anatomical Record.  301 (2018)  6 - p. 973-986 , 2018
Link: https://doi.org/10.1002/..
 
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6

Erratum: In-depth investigations of adolescents and adults ..:

Weiss, Karin ; Kruszka, Paul ; Guillen Sacoto, Maria J....
Genetics in Medicine.  20 (2018)  1 - p. 164 , 2018
Link: https://doi.org/10.1038/..
 
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7

Common genetic causes of holoprosencephaly are limited to a..:

Roessler, Erich ; Hu, Ping ; Marino, Juliana...
Human Mutation.  39 (2018)  10 - p. 1416-1427 , 2018
Link: https://doi.org/10.1002/..
 
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8

In-depth investigations of adolescents and adults with holo..:

Weiss, Karin ; Kruszka, Paul ; Guillen Sacoto, Maria J....
Genetics in Medicine.  20 (2018)  1 - p. 14-23 , 2018
Link: https://doi.org/10.1038/..
 
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9

Loss-of-function mutations in FGF8 can be independent risk ..:

Hong, Sungkook ; Hu, Ping ; Roessler, Erich..
Human Molecular Genetics.  27 (2018)  11 - p. 1989-1998 , 2018
Link: https://doi.org/10.1093/..
 
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10

Holoprosencephaly in the genomics era:

Roessler, Erich ; Hu, Ping ; Muenke, Maximilian
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  178 (2018)  2 - p. 165-174 , 2018
Link: https://doi.org/10.1002/..
 
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11

SIX3 deletions and incomplete penetrance in families affect..:

Stokes, Bethany ; Berger, Seth I. ; Hall, Beth A....
Congenital Anomalies.  58 (2017)  1 - p. 29-32 , 2017
Link: https://doi.org/10.1111/..
 
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12

BOCis a modifier gene in holoprosencephaly:

Hong, Mingi ; Srivastava, Kshitij ; Kim, Sungjin...
Human Mutation.  38 (2017)  11 - p. 1464-1470 , 2017
Link: https://doi.org/10.1002/..
 
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13

Dominant-negative kinase domain mutations inFGFR1can explai..:

Hong, Sungkook ; Hu, Ping ; Marino, Juliana...
Human Molecular Genetics.  25 (2016)  10 - p. 1912-1922 , 2016
Link: https://doi.org/10.1093/..
 
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14

GWAS reveals new recessive loci associated with non-syndrom..:

Camargo, Mauricio ; Rivera, Dora ; Moreno, Lina...
European Journal of Medical Genetics.  55 (2012)  10 - p. 510-514 , 2012
Link: https://doi.org/10.1016/..
 
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15

Patients within the broad holoprosencephaly spectrum have d..:

Pineda‐Alvarez, Daniel E. ; Solomon, Benjamin D. ; Roessler, Erich...
American Journal of Medical Genetics Part A.  158A (2012)  5 - p. 1244-1245 , 2012
Link: https://doi.org/10.1002/..
 
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