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Publications by Paulien Terhal

Unbalanced Der(5)t(5;20) Translocation Associated With Megalencephaly, Perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

American Journal of Medical Genetics, Part A

Genetics

2010

English

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

American Journal of Human Genetics

Genetics

2006

English

Related publications

Mild Phenotypes Associated With an Unbalanced X-Autosome Translocation, 46,X,der(X)t(X;8)(q28;q13)

Clinical Case Reports

Medicine

2018

English

Unbalanced Translocation Der(11)t(11;12)(q23;q13): A New Recurrent Cytogenetic Aberration in Myelodysplastic Syndrome With a Complex Karyotype

Cancer Genetics and Cytogenetics

2004

English

Spectral Karyotyping (SKY) Permits the Characterisation of a De Novo Unbalanced Translocation 46, XY, Der(14)t(12;14)

International Journal of Human Genetics

Genetics

2004

English

EP03.07: Prenatal Diagnosis of 22q11.2 Microdeletion: Minor Cardiac Finding Detected in Mid-Trimester Scan Associated With Severe Bilateral Perisylvian Polymicrogyria in Late Gestation

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Radiology

Ultrasound Technology

Gynecology

Reproductive Medicine

English

An Unbalanced Submicroscopic Translocation T(8;16)(q24.3;p13.3)pat Associated With Tuberous Sclerosis Complex, Adult Polycystic Kidney Disease, and Hypomelanosis of Ito

Journal of Medical Genetics

Genetics

2000

English

Unbalanced 5;16 Translocation in a Boy With Papillary Thyroid Carcinoma

American Journal of Medical Genetics

1994

English

Marfanoid Habitus Associated With Hydrocephalus

JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA

2018

English

Unbalanced Whole-Arm Translocation Der(5;19)(p10;q10) Is a Novel and Recurrent Cytogenetic Aberration in Myelodysplastic Syndrome

English

Shwachman Syndrome Associated With De Novo Reciprocal Translocation T(6;12)(q16.2;q21.2).

Journal of Medical Genetics

Genetics

1995

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Paulien Terhal

Unbalanced Der(5)t(5;20) Translocation Associated With Megalencephaly, Perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Related publications

Mild Phenotypes Associated With an Unbalanced X-Autosome Translocation, 46,X,der(X)t(X;8)(q28;q13)

Unbalanced Translocation Der(11)t(11;12)(q23;q13): A New Recurrent Cytogenetic Aberration in Myelodysplastic Syndrome With a Complex Karyotype

Spectral Karyotyping (SKY) Permits the Characterisation of a De Novo Unbalanced Translocation 46, XY, Der(14)t(12;14)

EP03.07: Prenatal Diagnosis of 22q11.2 Microdeletion: Minor Cardiac Finding Detected in Mid-Trimester Scan Associated With Severe Bilateral Perisylvian Polymicrogyria in Late Gestation

An Unbalanced Submicroscopic Translocation T(8;16)(q24.3;p13.3)pat Associated With Tuberous Sclerosis Complex, Adult Polycystic Kidney Disease, and Hypomelanosis of Ito

Unbalanced 5;16 Translocation in a Boy With Papillary Thyroid Carcinoma

Marfanoid Habitus Associated With Hydrocephalus

Unbalanced Whole-Arm Translocation Der(5;19)(p10;q10) Is a Novel and Recurrent Cytogenetic Aberration in Myelodysplastic Syndrome

Shwachman Syndrome Associated With De Novo Reciprocal Translocation T(6;12)(q16.2;q21.2).