Experienced in CHST3-Related Skeletal Dysplasia

Paulien A. Terhal

Utrecht, UT, NL 

Experienced in CHST3-Related Skeletal Dysplasia
Utrecht, UT, NL 
OverviewLocationsClinical Research

Overview

Paulien Terhal practices in Utrecht, Netherlands. Terhal is rated as an Experienced expert by MediFind in the treatment of CHST3-Related Skeletal Dysplasia. Their top areas of expertise are Brachydactyly Mononen Type, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Chondrodystrophy.

Their clinical research consists of co-authoring 57 peer reviewed articles. MediFind looks at clinical research from the past 15 years. In particular, they have co-authored 1 article in the study of CHST3-Related Skeletal Dysplasia.

Locations

Utrecht, UT, Netherlands

Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Experts who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.


57 Total Publications

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Journal: The Journal of clinical investigation
Published: September 18, 2025
View All 57 Publications

Areas of Expertise

MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.

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Find Terhal's expertise for a condition
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    • Distinguished
    • Brachydactyly Mononen Type
      Terhal is
      Distinguished
      . Learn about Brachydactyly Mononen Type.
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    • Advanced
    • Cantu Syndrome
      Terhal is
      Advanced
      . Learn about Cantu Syndrome.
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    • Chondrodystrophy
      Terhal is
      Advanced
      . Learn about Chondrodystrophy.
      See more Chondrodystrophy experts
    • Congenital Nephrotic Syndrome
      Terhal is
      Advanced
      . Learn about Congenital Nephrotic Syndrome.
      See more Congenital Nephrotic Syndrome experts
    • FG Syndrome
      Terhal is
      Advanced
      . Learn about FG Syndrome.
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    • Hirsutism in Women
      Terhal is
      Advanced
      . Learn about Hirsutism in Women.
      See more Hirsutism in Women experts
    • Schwartz-Jampel Syndrome
      Terhal is
      Advanced
      . Learn about Schwartz-Jampel Syndrome.
      See more Schwartz-Jampel Syndrome experts
    View All 8 Advanced Conditions
    • Experienced
    • 3M Syndrome
      Terhal is
      Experienced
      . Learn about 3M Syndrome.
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    • Acheiropody
      Terhal is
      Experienced
      . Learn about Acheiropody.
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    • Achondrogenesis
      Terhal is
      Experienced
      . Learn about Achondrogenesis.
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    • Acromegaloid Facial Appearance Syndrome
      Terhal is
      Experienced
      . Learn about Acromegaloid Facial Appearance Syndrome.
      See more Acromegaloid Facial Appearance Syndrome experts
    • Acromesomelic Dysplasia
      Terhal is
      Experienced
      . Learn about Acromesomelic Dysplasia.
      See more Acromesomelic Dysplasia experts
    • Acromesomelic Dysplasia Campailla Martinelli Type
      Terhal is
      Experienced
      . Learn about Acromesomelic Dysplasia Campailla Martinelli Type.
      See more Acromesomelic Dysplasia Campailla Martinelli Type experts
    View All 35 Experienced Conditions
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