E-LIB Suche - Ergebnisse für: Lachman, Ralph

1

Brief Report: Peripheral Osteolysis in Adults Linked to ASA..:

Bonafé, Luisa ; Kariminejad, Ariana ; Li, Jia...
Arthritis & Rheumatology. 68 (2016) 9 - p. 2323-2327 , 2016

2

Nosology and classification of genetic skeletal disorders: ..:

Bonafe, Luisa ; Cormier‐Daire, Valerie ; Hall, Christine...
American Journal of Medical Genetics Part A. 167 (2015) 12 - p. 2869-2892 , 2015

Link: https://doi.org/10.1002/..

3

Diagnosis of ALG12-CDG by exome sequencing in a case of sev..:

Murali, Chaya ; Lu, James T. ; Jain, Mahim...
Molecular Genetics and Metabolism Reports. 1 (2014) - p. 213-219 , 2014

Link: https://doi.org/10.1016/..

4

A review of the clinical presentation and diagnosis of Muco..:

Tomatsu, Shunji ; Hendriksz, Chris ; Harmatz, Paul...
Molecular Genetics and Metabolism. 108 (2013) 2 - p. S90-S91 , 2013

Link: https://doi.org/10.1016/..

5

Chondrodysplasias:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics,

Rimoin, David L. ; Lachman, Ralph ; Unger, Sheila - p. 1-45 , 2013

Link: https://doi.org/10.1016/..

6

A novel skeletal disorder defines an intracellular role for..:

Merrill, Amy Elizabeth ; Sarukhanov, Anna ; Krejci, Pavel...
The FASEB Journal. 26 (2012) S1 - p. , 2012

Link: https://doi.org/10.1096/..

7

A newly recognized syndrome with characteristic facial feat..:

Baratela, Wagner A.R. ; Bober, Michael B. ; Tiller, George E....
American Journal of Medical Genetics Part A. 158A (2012) 8 - p. 1815-1822 , 2012

Link: https://doi.org/10.1002/..

8

Metaphyseal chondromatosis combined with D-2-hydroxyglutari..:

Choo, Hye Jung ; Cho, Tae-Joon ; Song, Junghan...
Skeletal Radiology. 41 (2012) 11 - p. 1479-1487 , 2012

Link: https://doi.org/10.1007/..

9

The ancient Egyptian dwarfs of the pyramids: The high offic..:

Kozma, Chahira ; Sarry El Din, Azza Mohamed ; El Shafy El Banna, Rokia Abd..
American Journal of Medical Genetics Part A. 155 (2011) 8 - p. 1817-1824 , 2011

Link: https://doi.org/10.1002/..

10

Nosology and classification of genetic skeletal disorders: ..:

Warman, Matthew L. ; Cormier‐Daire, Valerie ; Hall, Christine...
American Journal of Medical Genetics Part A. 155 (2011) 5 - p. 943-968 , 2011

Link: https://doi.org/10.1002/..

11

Radiologic and neuroradiologic findings in the mucopolysacc..:

Lachman, Ralph ; Martin, Kenneth W. ; Castro, Sérgio...
Journal of Pediatric Rehabilitation Medicine. 3 (2010) 2 - p. 109-118 , 2010

Link: https://doi.org/10.3233/..

12

Terminal osseous dysplasia with pigmentary defects (TODPD):..:

Brunetti‐Pierri, Nicola ; Lachman, Ralph ; Lee, Kwanghyuk...
American Journal of Medical Genetics Part A. 152A (2010) 7 - p. 1825-1831 , 2010

Link: https://doi.org/10.1002/..

13

De novo three‐way chromosome translocation 46,XY,t(4;6;21)(..:

Purandare, Smita M. ; Mendoza‐Londono, Roberto ; Yatsenko, Svetlana A....
American Journal of Medical Genetics Part A. 146A (2008) 4 - p. 453-458 , 2008

Link: https://doi.org/10.1002/..

14

Hooshang Taybi, M.D. (1919-2006):

, In: Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias,

Cohen, Ron ; Gooding, Charles ; Lachman, Ralph - p. vi , 2007

Link: https://doi.org/10.1016/..

15

In memoriam: Hooshang Taybi, M.D. (1919–2006)*:

Lachman, Ralph ; Carey, John C.
American Journal of Medical Genetics Part A. 140A (2006) 24 - p. 2707-2708 , 2006

Link: https://doi.org/10.1002/..