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1 . Academic Journal
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
저자
by
Chaya Murali
;
James T. Lu
;
Mahim Jain
;
David S. Liu
;
Ralph Lachman
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 213-219 (2014)
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7 . Academic Journal
Long-term outcome in desbuquois dysplasia: A follow-up in four adult patients (Laurence Faivre and Valérie Cormier-Daire contributed equally in this study.).
저자
by
Laurence Faivre
;
Valérie Cormier-Daire
;
Ian Young
;
Henri Bracq
;
Georges Finidori
, et al.
소스
American Journal of Medical Genetics; 2004, Vol. 124 Issue 1, p54-59, 6p
Scopus
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7 . Academic Journal
Desbuquois dysplasia, a reevaluation with abnormal and normal hands: Radiographic manifestations (Laurence Faivre and Valérie Cormier-Daire equally contributed in this work.).
저자
by
Laurence Faivre
;
Valérie Cormier-Daire
;
Alison M. Eliott
;
Fiona Field
;
Arnold Munnich
, et al.
소스
American Journal of Medical Genetics; 2004, Vol. 124 Issue 1, p48-53, 6p
Scopus
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7 .
What Is New in Prenatal Skeletal Dysplasias?
저자
by
Monica Epelman
;
N. Scott Adzick
;
Ralph Lachman
;
Edward R. Oliver
;
Xiaowei Zhu
, et al.
소스
AJR. American journal of roentgenology
. 210(5)
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7 .
Type II collagenopathy (hypochondrogenesis)
저자
by
Heike E. Daldrup-Link
;
Ralph Lachman
;
Beverly Newman
.
소스
Pearls and Pitfalls in Pediatric Imaging: Variants and Other Difficult Diagnoses
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5 .
Campomelic dysplasia
저자
by
Ralph Lachman
.
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3 .
Enzyme-Replacement Therapy in Mucopolysaccharidosis I
저자
by
Emil D. Kakkis
;
Joseph Muenzer
;
George E. Tiller
;
Lewis Waber
;
John Belmont
, et al.
소스
New England Journal of Medicine
. 344:182-188
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7 .
Chondrodysplasias
저자
by
David L. Rimoin
;
Ralph Lachman
;
Sheila Unger
.
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5 .
Kasabach-Merritt Syndrome-Associated Kaposiform Hemangioendothelioma Successfully Treated With Cyclophosphamide, Vincristine, and Actinomycin D
저자
by
Bing Hu
;
Ralph Lachman
;
Jeffery Phillips
;
Shi-Kaung Peng
;
Lance Sieger
.
소스
Journal of Pediatric Hematology/Oncology
. 20:567-569
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7 .
Radiologic and imaging assessment of the skeletal dysplasias
저자
by
Ralph Lachman
.
소스
Growth Disorders 2E
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