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BRCA2 Germline Mutations in Familial Pancreatic Carcinoma

JNCI : Journal of the National Cancer Institute, 2003-02, Vol.95 (3), p.214-221

2003

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Brazilian cardio-oncology: the 10-year experience of the Instituto do Cancer do Estado de Sao Paulo

BMC cardiovascular disorders, 2020-04, Vol.20 (1), p.206-206, Article 206

2020

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Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

Human mutation, 2005-08, Vol.26 (2), p.78-83

2005

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Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis

Archives of gynecology and obstetrics, 2009-12, Vol.280 (6), p.1049-1053

2009

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High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Clinical genetics, 2012-06, Vol.81 (6), p.598-601

2012

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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study

Clinical genetics, 2008-09, Vol.74 (3), p.279-283

2008

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A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome

Clinical genetics, 2007-11, Vol.72 (5), p.454-459

2007

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Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

Human genetics, 2001-02, Vol.108 (2), p.98-104

2001

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Prolonging the lifetime of mirror coatings with a mirror purge system

Publications of the Astronomical Society of the Pacific, 2005-03, Vol.117 (829), p.290-294

2005

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Neural tube defects in chromosomally normal and abnormal human embryos

Ultrasound in obstetrics & gynecology, 1997-12, Vol.10 (6), p.410-415

1997

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Case Series of Monoamniotic and Pseudomonoamniotic Twin Gestations

ISRN obstetrics and gynecology, 2013, Vol.2013, p.369419-3

2013

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Microdeletion 22q11 in complex cardiovascular malformations

Human genetics, 1997-04, Vol.99 (4), p.433-442

1997

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Comparison of Fetal Cerebellum and Cisterna Magna Length by 2D and 3D Ultrasonography between 18 and 24 Weeks of Pregnancy

ISRN obstetrics and gynecology, 2012, Vol.2012 (2012), p.1-8

2012

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Outcome of Fetuses with Diagnosis of Isolated Short Femur in the Second Half of Pregnancy

ISRN obstetrics and gynecology, 2012, Vol.2012 (2012), p.1-5

2012

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Nitrate, Nitrate Reduction and Organic Nitrogen in Plants from Different Ecological and Taxonomic Groups of Central Europe

Oecologia, 1988-04, Vol.75 (3), p.371-385

1988

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Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns' syndrome

Ultrasound in obstetrics & gynecology, 1997-12, Vol.10 (6), p.422-424

1997

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Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions

European journal of human genetics : EJHG, 2001-07, Vol.9 (7), p.539-547

2001

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Loss of Heterozygosity of the Retinoblastoma (RB1) Gene in Lipomas From a Retinoblastoma Patient

JNCI : Journal of the National Cancer Institute, 1998-02, Vol.90 (4), p.324-326

1998

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Nitrogen relations of ruderal communities (Rumicion alpini) in the northern Calcareous Alps

Oecologia, 1982-10, Vol.55 (1), p.120-129

Rehder, H

1982

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Eine neue Stanzentechnik am Knorpel-Knochengewebe für morphologische Untersuchungen in der Orthopädie

Zeitschrift für orthopädie und ihre grenzgebiete, 1995, Vol.133 (5), p.405-410

1995

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Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect

Clinical genetics, 1987-07, Vol.32 (1), p.1-4

1987

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Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

Human genetics, 2000-03, Vol.106 (3), p.311-313

2000

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The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans

Nature genetics, 1993-09, Vol.5 (1), p.74-78

1993

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A case of full triploidy (69,XXX) of paternal origin with unusually long survival time

Clinical genetics, 1993-02, Vol.43 (2), p.79-82

1993

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Familiäre Akinesie-Hypokinesie-Sequenz (Pena-Shokeir-Phänotyp)

Geburtshilfe und Frauenheilkunde, 1994-05, Vol.54 (5), p.276-285

1994

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BRCA2 Germline Mutations in Familial Pancreatic Carcinoma

Brazilian cardio-oncology: the 10-year experience of the Instituto do Cancer do Estado de Sao Paulo

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

Prolonging the lifetime of mirror coatings with a mirror purge system

Neural tube defects in chromosomally normal and abnormal human embryos

Case Series of Monoamniotic and Pseudomonoamniotic Twin Gestations

Microdeletion 22q11 in complex cardiovascular malformations

Comparison of Fetal Cerebellum and Cisterna Magna Length by 2D and 3D Ultrasonography between 18 and 24 Weeks of Pregnancy

Outcome of Fetuses with Diagnosis of Isolated Short Femur in the Second Half of Pregnancy

Nitrate, Nitrate Reduction and Organic Nitrogen in Plants from Different Ecological and Taxonomic Groups of Central Europe

Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns' syndrome

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions

Loss of Heterozygosity of the Retinoblastoma (RB1) Gene in Lipomas From a Retinoblastoma Patient

Nitrogen relations of ruderal communities (Rumicion alpini) in the northern Calcareous Alps

Eine neue Stanzentechnik am Knorpel-Knochengewebe für morphologische Untersuchungen in der Orthopädie

Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans

A case of full triploidy (69,XXX) of paternal origin with unusually long survival time

Familiäre Akinesie-Hypokinesie-Sequenz (Pena-Shokeir-Phänotyp)

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