Limb deficiency syndrome in half-sibs

Clinical Genetics ◽

10.1111/j.1399-0004.1981.tb01054.x ◽

2008 ◽

Vol 20 (6) ◽

pp. 432-437 ◽

Author(s):

Jacqueline T. Hecht ◽

Charles I. Scott

Keyword(s):

Deficiency Syndrome ◽

Limb Deficiency

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Gollop-Wolfgang Complex - A Rare Limb Deficiency Syndrome: Case Report And Review Of Literature

The Internet Journal of Gynecology and Obstetrics ◽

10.5580/991 ◽

2008 ◽

Vol 9 (1) ◽

Keyword(s):

Case Report ◽

Deficiency Syndrome ◽

Review Of Literature ◽

Limb Deficiency

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A rare case of limb deficiency syndrome: Gollop WolfGang syndrome

Radiology Case Reports ◽

10.1016/j.radcr.2021.05.025 ◽

2021 ◽

Vol 16 (8) ◽

pp. 2053-2055

Author(s):

Ronak Hapani ◽

Mona Shastri

Keyword(s):

Rare Case ◽

Deficiency Syndrome ◽

Limb Deficiency

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An Antibody-Deficiency Syndrome Due to Mutations in the CD19 Gene

Yearbook of Dermatology and Dermatologic Surgery ◽

10.1016/s0093-3619(08)70521-5 ◽

2007 ◽

Vol 2007 ◽

pp. 230-231

Author(s):

G.M.P. Galbraith

Keyword(s):

Deficiency Syndrome ◽

Antibody Deficiency ◽

Antibody Deficiency Syndrome

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GLUT1 deficiency syndrome in a consanguineous Arab family carrying a novel homozygous missense mutation

Neuropediatrics ◽

10.1055/s-0029-1215773 ◽

2008 ◽

Vol 39 (05) ◽

Author(s):

J Klepper ◽

T Ben-Omran ◽

H Scheffer

Keyword(s):

Missense Mutation ◽

Deficiency Syndrome ◽

Homozygous Missense Mutation ◽

Glut1 Deficiency ◽

Glut1 Deficiency Syndrome

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Atypical Presentation of the GLUT-1 Deficiency Syndrome with Cataract and Normal Glucose Concentration in Cerebrospinal Fluid

Neuropediatrics ◽

10.1055/s-0034-1390645 ◽

2014 ◽

Vol 45 (S 01) ◽

Author(s):

N. Schmitz ◽

A. Blank ◽

M. Bartels ◽

R. König ◽

M. Kieslich

Keyword(s):

Cerebrospinal Fluid ◽

Glucose Concentration ◽

Deficiency Syndrome ◽

Atypical Presentation ◽

Glut 1 ◽

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A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome

Endocrine Abstracts ◽

10.1530/endoabs.51.p060 ◽

2017 ◽

Author(s):

Edna Roche ◽

Anne McGowan ◽

Olympia Koulouri ◽

Marc-Olivier Turgeon ◽

Adeline K Nicholas ◽

...

Keyword(s):

Deficiency Syndrome ◽

Family Screening

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Dopamine transporter deficiency syndrome: clinical characteristics, functional insights and novel therapeutic strategies

Intrinsic Activity ◽

10.25006/ia.4.s2-a4.1 ◽

2016 ◽

Vol 4 (Suppl. 2) ◽

pp. A4.1

Author(s):

Manju. A. Kurian

Keyword(s):

Dopamine Transporter ◽

Clinical Characteristics ◽

Deficiency Syndrome ◽

Therapeutic Strategies ◽

Transporter Deficiency ◽

Novel Therapeutic Strategies ◽

Novel Therapeutic

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A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)

Journal of the korean child neurology society ◽

10.26815/jkcns.2014.22.3.182 ◽

2014 ◽

Vol 22 (3) ◽

pp. 182-185

Author(s):

신종수 ◽

김성환 ◽

이문정

Keyword(s):

Case Report ◽

Splice Site ◽

Glucose Transporter ◽

Splice Site Mutation ◽

Deficiency Syndrome ◽

Site Mutation ◽

Glucose Transporter 1

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Pengetahuan dan Sikap Perempuan yang Sudah Menikah Terhadap Pencegahan Penularan Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS)

Jurnal Aisyah Jurnal Ilmu Kesehatan ◽

10.30604/jika.v3i2.130 ◽

2018 ◽

Vol 3 (2) ◽

pp. 153-162

Author(s):

Rayinda Ayuningtias ◽

Tetti Solehati ◽

Ida Maryati

Keyword(s):

Immune Deficiency ◽

Human Immunodeficiency Virus ◽

Immune Deficiency Syndrome ◽

Acquired Immune Deficiency Syndrome ◽

Deficiency Syndrome ◽

Immunodeficiency Virus ◽

Acquired Immune Deficiency ◽

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Peripheral blood and bone marrow findings in patients with acquired immune deficiency syndrome

Pathology ◽

10.3109/00313029009086664 ◽

1990 ◽

Vol 22 (4) ◽

pp. 206-211 ◽

Author(s):

Catherine E. Harris ◽

James C. Biggs ◽

Alan J. Concannon ◽

Anthony J. Dodds

Keyword(s):

Immune Deficiency ◽

Bone Marrow ◽

Peripheral Blood ◽

Immune Deficiency Syndrome ◽

Acquired Immune Deficiency Syndrome ◽

Deficiency Syndrome ◽

Acquired Immune Deficiency

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