BCS1L mutations produce Fanconi syndrome with developmental disability

Journal of Human Genetics ◽

10.1038/s10038-021-00984-0 ◽

2021 ◽

Author(s):

Kojima-Ishii Kanako ◽

Nana Sakakibara ◽

Kei Murayama ◽

Koji Nagatani ◽

Satoshi Murata ◽

...

Keyword(s):

Developmental Disability ◽

Fanconi Syndrome

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Developmental Disability and Behaviour. By Christopher Gillberg and Gregory O'Brien, Editors. London: Mac Keith Press (Clinics in Developmental Medicine), distributed by Cambridge University Press. 2000, pp 189, £45.00, US$75.50, ISBN 1 898 683 182.

Developmental Medicine & Child Neurology ◽

10.1017/s0012162200241327 ◽

2000 ◽

Vol 42 (10) ◽

pp. 716-717

Author(s):

Marc A Forman

Keyword(s):

Developmental Disability ◽

Cambridge University

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Interventions to Promote the Self-Determination of Youth With Intellectual/Developmental Disability

PsycEXTRA Dataset ◽

10.1037/e516692016-001 ◽

2016 ◽

Keyword(s):

Developmental Disability ◽

The Self ◽

Self Determination

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Review for "Bisphosphonate‐induced deterioration of osteomalacia in undiagnosed adult Fanconi syndrome"

10.1002/jbm4.10374/v1/review2 ◽

2020 ◽

Keyword(s):

Fanconi Syndrome

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Effects of the Art activity program centered on speech breathing on Oral movement and Vocalization of Infants with developmental disability

JOURNAL OF SPECIAL EDUCATION & REHABILITATION SCIENCE ◽

10.15870/jsers.2014.03.53.1.299 ◽

2014 ◽

Vol 53 (1) ◽

Author(s):

Young Pyo Kim

Keyword(s):

Developmental Disability ◽

Activity Program ◽

Speech Breathing

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Effect of Intensive Tact Instruction on Spontaneous Verbal Behavior in Three Children with Developmental Disability

Studia Universitatis Babeș-Bolyai Psychologia-Paedagogia ◽

10.24193/subbpsyped.2018.1.05 ◽

2018 ◽

Vol 63 (1) ◽

pp. 91-101

Author(s):

Adele Carpitelli ◽

◽

Claudia Loria ◽

Roberta Tre Re ◽

Valentina Petrini ◽

...

Keyword(s):

Verbal Behavior ◽

Developmental Disability ◽

Tact Instruction

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Attitudes to Palliative Care and the Care of People with Intellectual and Developmental Disability in Europe and Africa

10.26226/morressier.5c76c8b9e2ea5a7237611e51 ◽

2019 ◽

Author(s):

David Oliver

Keyword(s):

Palliative Care ◽

Developmental Disability ◽

Intellectual And Developmental Disability

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Faculty Opinions recommendation of A case report of deferasirox-induced kidney injury and Fanconi syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718397914.793512233 ◽

2015 ◽

Author(s):

Orson Moe

Keyword(s):

Case Report ◽

Fanconi Syndrome ◽

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Faculty Opinions recommendation of Fanconi syndrome due to deferasirox.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.721895664.793512232 ◽

2015 ◽

Author(s):

Orson Moe

Keyword(s):

Fanconi Syndrome

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Faculty Opinions recommendation of Acute renal failure and Fanconi syndrome due to deferasirox.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725069821.793512230 ◽

2015 ◽

Author(s):

Orson Moe

Keyword(s):

Renal Failure ◽

Acute Renal Failure ◽

Fanconi Syndrome

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Faculty Opinions recommendation of Renal fanconi syndrome and hypophosphatemic rickets in the absence of xenotropic and polytropic retroviral receptor in the nephron.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726911554.793537193 ◽

2017 ◽

Author(s):

Todd Alexander

Keyword(s):

Fanconi Syndrome ◽

Hypophosphatemic Rickets ◽

Renal Fanconi Syndrome ◽

Retroviral Receptor

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