Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.A Perspective on Inherited Kidney Disease: Lessons for Practicing Nephrologists.

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Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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name

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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type

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Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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P1476

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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P2093

Baris Turkbey

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Daniel A Doherty

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Ian A Glass

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John A Sayer

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Joy Bryant

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Kailash Daryanani

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Leah R Fleming

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May Christine Malicdan

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Meghana Vemulapalli

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Melissa A Parisi

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P2860

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Liver and kidney disease in ciliopathies

Accurate whole human genome sequencing using reversible terminator chemistry

New equations to estimate GFR in children with CKD

A new equation to estimate glomerular filtration rate

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Outcome of antenatally detected cystic dysplastic kidney disease

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

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1962-1973

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scholarly article

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10.2215/CJN.05660517

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James C Mullikin

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2017-11-16T00:00:00Z

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29146704

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5718273

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Prospective Evaluation of Kidney Disease in Joubert Syndrome.

about

P2860

P2860

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

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P1433

P1476

P2093

P2860

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P1476

P2093

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P356

P433

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P50

P577

P698

P932