Shaffer, LG: search on Z-Library

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1

Familial case of Potocki–Shaffer syndrome associated with microdeletion of EXT2 and ALX4

CR Hall, Y Wu, LG Shaffer, JT Hecht

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 3.80 MB

english, 2001

2

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis

HA Heilstedt, SK Shapira, AR Gregg, LG Shaffer

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 239 KB

english, 1999

3

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype

P Stankiewicz, S-S Park, SE Holder, CS Waters, RW Palmer, SA Berend, LG Shaffer, L Potocki, JR Lupski

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 2.31 MB

english, 2001

4

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

HA Heilstedt, BC Ballif, LA Howard, CD Kashork, LG Shaffer

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 421 KB

english, 2003

5

Omphalocele in trisomy 3q: further delineation of phenotype

SA Yatsenko, R Mendoza-Londono, JW Belmont, LG Shaffer

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 467 KB

english, 2003

6

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17P trisomy-translocation to the X chromosome

PH King, R. Waldrop, JR Lupski, LG Shaffer

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 716 KB

english, 1998

7

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

BC Ballif, A Theisen, DM McDonald-McGinn, EH Zackai, JH Hersh, BA Bejjani, LG Shaffer

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

8

A dual FISH assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.

Berend, SA, Holmes, RK, Craigen, WJ, Spikes, AS, Kashork, CD, Wu, JM, Daw, SC, Scambler, PJ, Shaffer, LG

Journal:

Genetics in Medicine

Year:

1999

Language:

english

File:

PDF, 141 KB

english, 1999