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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Clinical genetics, 2007-01, Vol.71 (1), p.67-75

2007

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Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk

AIDS (London), 2012-09, Vol.26 (14), p.1775-1779

SHANSKE, Alan L

2012

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A myeloproliferative disorder with eosinophilia associated with a unique translocation (3;5)

British journal of haematology, 1996-12, Vol.95 (3), p.524-526

1996

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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome

Pediatric research, 2005-11, Vol.58 (5), p.981-986

2005

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Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA

American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3185-3188

2010

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Trisomy 18 in a second 20-year-old woman

American journal of medical genetics. Part A, 2006-05, Vol.140A (9), p.966-967

Shanske, Alan L.

2006

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Split hand foot malformation (SHFM): An introduction

American journal of medical genetics. Part A, 2006-07, Vol.140A (13), p.1357-1358

Shanske, Alan L.

2006

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Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1314-1321

2011

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Autoimmune Neonatal Chondrodysplasia Punctata and Maternal Lupus

Journal of allergy and clinical immunology, 2007, Vol.119 (1), p.S19-S19

2007

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Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy

Neurology, 1997-02, Vol.48 (2), p.453

1997

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Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation

American journal of medical genetics, 2004-11, Vol.131A (1), p.29-35

2004

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Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature

Hormone research, 2007-02, Vol.67 (2), p.61-66

2007

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Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS

Birth defects research. A Clinical and molecular teratology, 2003-06, Vol.67 (6), p.467-471

2003

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Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs

American journal of medical genetics, 2004-08, Vol.128A (4), p.431-433

2004

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First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature

Prenatal diagnosis, 2003-02, Vol.23 (2), p.138-142

2003

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Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins

Journal of medical genetics, 1999-08, Vol.36 (8), p.625-628

1999

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Prenatal Diagnosis of Marshall Syndrome by Targeted Sonography

Journal of ultrasound in medicine, 2005-12, Vol.24 (12), p.1735-1737

2005

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Original Article: Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Clinical genetics, 2007-01, Vol.71 (1), p.67

2007

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A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)

Human genetics, 1999, Vol.104 (1), p.94-98

1999

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Philadelphia-negative chronic myelogenous leukemia in a patient with a unique complex translocation: 46,XY,t(9;12;15)(q34;q12;q21)

Leukemia research, 1998-07, Vol.22 (7), p.645-648

1998

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MELAS point mutation with unusual clinical presentation

Neuromuscular disorders : NMD, 1993-01, Vol.3 (3), p.191-193

1993

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Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome

Clinical dysmorphology, 2002-01, Vol.11 (1), p.67-69

2002

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Prenatal diagnosis of type 2 Pfeiffer syndrome

Ultrasound in obstetrics & gynecology, 1996-12, Vol.8 (6), p.425-428

1996

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Hemimaxillofacial dysplasia: A report of two new cases and further delineation of the disorder

Oral surgery, oral medicine, oral pathology, oral radiology and endodontics, 1997-04, Vol.83 (4), p.484-488

1997

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A common mutation site in the β-galactosidase gene originates in Puerto Rico

Pediatric neurology, 1996, Vol.14 (1), p.53-56

1996

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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk

A myeloproliferative disorder with eosinophilia associated with a unique translocation (3;5)

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome

Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA

Trisomy 18 in a second 20-year-old woman

Split hand foot malformation (SHFM): An introduction

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

Autoimmune Neonatal Chondrodysplasia Punctata and Maternal Lupus

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy

Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation

Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS

Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs

First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature

Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins

Prenatal Diagnosis of Marshall Syndrome by Targeted Sonography

Original Article: Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)

Philadelphia-negative chronic myelogenous leukemia in a patient with a unique complex translocation: 46,XY,t(9;12;15)(q34;q12;q21)

MELAS point mutation with unusual clinical presentation

Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome

Prenatal diagnosis of type 2 Pfeiffer syndrome

Hemimaxillofacial dysplasia: A report of two new cases and further delineation of the disorder

A common mutation site in the β-galactosidase gene originates in Puerto Rico

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