PMC Articles for MedGen (Select 342551) - PMC - NCBI

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Select item 25980531.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Louise S Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al‐Madani, Helen Firth, Mohammad Hassan Karimi‐Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean‐Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, L C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, Stephen P Robertson

J Med Genet. 2007 Feb; 44(2): 89–98. Published online 2006 Jun 26. doi: 10.1136/jmg.2006.043687

PMCID:: PMC2598053

Abstract Article PDF–1.0M

Select item 17345582.

Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles

C Armour, D Bulman, A Hunter

J Med Genet. 2000 Apr; 37(4): 292–296. doi: 10.1136/jmg.37.4.292

PMCID:: PMC1734558

Summary PDF–200K

Select item 10162763.

Brachymorphism-onychodysplasia-dysphalangism syndrome.

A Verloes, D Bonneau, O Guidi, M Berthier, D Oriot, L Van Maldergem, L Koulischer

J Med Genet. 1993 Feb; 30(2): 158–161. doi: 10.1136/jmg.30.2.158

PMCID:: PMC1016276

Summary Page Browse PDF–1.4M

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PMC Articles for MedGen (Select 342551) (3)
PMC
MULTISPECIES: Lrp/AsnC ligand binding domain-containing protein [Nitrosopumilus]
MULTISPECIES: Lrp/AsnC ligand binding domain-containing protein [Nitrosopumilus]
gi|504776750|ref|WP_014963852.1|

Protein
40S ribosomal protein S19, partial [Nitrosopumilus sp.]
40S ribosomal protein S19, partial [Nitrosopumilus sp.]
gi|2544536813|ref|WP_300324037.1|

Protein
six6a SIX homeobox 6a [Danio rerio]
six6a SIX homeobox 6a [Danio rerio]
Gene ID:394080

Gene

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