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11 .
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
저자
by
Gary Bellus
;
Judith L. Ross
;
Giedre Grigelioniene
;
Jack Abboudi
;
Andrew R. Zinn
, et al.
소스
American Journal of Medical Genetics
. :61-65
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17 .
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
저자
by
Jill A. Rosenfeld
;
Marwan Shinawi
;
Scott Saunders
;
Livija Medne
;
Shashikant Kulkarni
, et al.
소스
Human Mutation, vol. 33, no. 1, pp. 165-179
Open Access (OpenAIRE)
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17 .
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
저자
by
Katarzyna E. Kolodziejska
;
Ewa Bocian
;
Tadeusz Mazurczak
;
Pawel Stankiewicz
;
Tyler Reimschisel
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
. 13(5)
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17 .
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency
저자
by
Ruth Alpers
;
Moira L. Ogden
;
L. Dorland
;
Arnold W. Strauss
;
Gary Bellus
, et al.
소스
Proceedings of the National Academy of Sciences
. 87:9236-9240
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17 .
In this Issue
저자
by
William L. Weston
;
Gary Bellus
.
소스
Journal of Investigative Dermatology
. 111(5):713-714
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14 .
Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
저자
by
Anthony T. Garber
;
Melanie K. Webster
;
Christine A. Weaver
;
Phyllis W. Speiser
;
Clair A. Francomano
, et al.
소스
The American Journal of Human Genetics
. (6):1411-1421
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17 .
Achondroplasia is defined by recurrent G380R mutations of FGFR3
저자
by
Gary Bellus
;
Tw, Hefferon
;
Ri, Ortiz Luna
;
Jt, Hecht
;
Wa, Horton
, et al.
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Europe PubMed Central
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