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Hemifacial microsomia: Developmental consequence of perturbation of the auriculofacial cartilage model?

American journal of medical genetics, 1992-02, Vol.42 (4), p.461-466

1992

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Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment

American journal of medical genetics, 2003-06, Vol.119A (2), p.111-120

2003

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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11

American journal of medical genetics, 1993-02, Vol.45 (3), p.308-312

1993

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Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMT-1 testing: X-linked mental retardation

American journal of medical genetics, 1994, Vol.51 (4), p.474-481

1994

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Blanaced translocation 12/13 and situs abnormalities : homology of early pattern formation in man and lower organisms ?

American journal of medical genetics, 1991, Vol.38 (4), p.601-607

1991

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Infant with severe penicillamine embryopathy born to a woman with Wilson disease

American journal of medical genetics, 2004-07, Vol.128A (3), p.294-298

2004

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"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

American journal of medical genetics, 2002-03, Vol.108 (3), p.177-181

2002

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Genetic risk assessment in carrier testing for spinal muscular atrophy

American journal of medical genetics, 2002-07, Vol.110 (4), p.301-307

2002

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Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of hirschsprung disease

American journal of medical genetics, 2004-01, Vol.124A (1), p.102-104

2004

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Common mutations of ATP7B in Wilson disease patients from Hungary

American journal of medical genetics, 2002-02, Vol.108 (1), p.23-28

2002

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Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH

American journal of medical genetics, 2005-01, Vol.132A (2), p.206-208

2005

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Bipolar disorder: Evidence for a major locus

American journal of medical genetics, 1995-10, Vol.60 (5), p.370-376

1995

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GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

American journal of medical genetics, 1999-03, Vol.83 (3), p.201-206

1999

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Comparative genomic hybridization: A new approach to screening for intrauterine complete or mosaic aneuploidy

American journal of medical genetics, 2000-06, Vol.92 (4), p.281-284

2000

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Segregation analysis of smoking-associated malignancies: Evidence for mendelian inheritance

American journal of medical genetics, 1994-09, Vol.52 (3), p.308-314

1994

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Barth syndrome: Clinical observations and genetic linkage studies

American journal of medical genetics, 1994-04, Vol.50 (3), p.255-264

1994

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Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

American journal of medical genetics, 1999-08, Vol.85 (5), p.463-469

1999

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Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases

American journal of medical genetics, 1996-11, Vol.65 (4), p.348-352

1996

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Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific

American journal of medical genetics, 1993-01, Vol.45 (1), p.68-76

1993

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Choanal atresia and hypothelia following methimazole exposure in utero: A second report

American journal of medical genetics, 1998-01, Vol.75 (2), p.220-222

1998

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Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)

American journal of medical genetics, 1999-09, Vol.86 (1), p.27-33

1999

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Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21

American journal of medical genetics, 2004-11, Vol.131A (1), p.86-90

2004

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Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects

American journal of medical genetics, 2002-07, Vol.110 (3), p.273-277

2002

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Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia

American journal of medical genetics, 1997-10, Vol.72 (3), p.302-306

1997

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Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy

American journal of medical genetics, 1986-05, Vol.24 (1), p.69-82

1986

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Hemifacial microsomia: Developmental consequence of perturbation of the auriculofacial cartilage model?

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11

Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMT-1 testing: X-linked mental retardation

Blanaced translocation 12/13 and situs abnormalities : homology of early pattern formation in man and lower organisms ?

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

Genetic risk assessment in carrier testing for spinal muscular atrophy

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of hirschsprung disease

Common mutations of ATP7B in Wilson disease patients from Hungary

Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH

Bipolar disorder: Evidence for a major locus

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

Comparative genomic hybridization: A new approach to screening for intrauterine complete or mosaic aneuploidy

Segregation analysis of smoking-associated malignancies: Evidence for mendelian inheritance

Barth syndrome: Clinical observations and genetic linkage studies

Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases

Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific

Choanal atresia and hypothelia following methimazole exposure in utero: A second report

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21

Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia

Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy

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