Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

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Mutations in the human UBR1 gene and the associated phenotypic spectrum.Clinical utility gene card for: Johanson-Blizzard syndrome.

P2860

Q38193717-FC214159-5737-466D-A3B5-0902C806C269 Q39122615-A30386BD-C2F0-4848-8519-EE3CB5764ED3

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Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

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2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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name

Recurrent Johanson-Blizzard sy ...... immunohistochemical approach.

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Recurrent Johanson-Blizzard sy ...... immunohistochemical approach.

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type

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Recurrent Johanson-Blizzard sy ...... immunohistochemical approach.

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Recurrent Johanson-Blizzard sy ...... immunohistochemical approach.

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Recurrent Johanson-Blizzard sy ...... immunohistochemical approach.

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Recurrent Johanson-Blizzard sy ...... immunohistochemical approach.

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P1476

Recurrent Johanson-Blizzard sy ...... immunohistochemical approach.

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Barbara Fritz

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Frank Louwen

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Georg Huelskamp

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Helga Rehder

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Katharina Schoner

http://www.w3.org/2001/XMLSchema#string

Martin Zenker

http://www.w3.org/2001/XMLSchema#string

Roland Moll

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P2860

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

The mouse and human genes encoding the recognition component of the N-end rule pathway

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Construction and analysis of mouse strains lacking the ubiquitin ligase UBR1 (E3alpha) of the N-end rule pathway

Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.

The Johanson-Blizzard syndrome: a second report of full autopsy findings.

The Johanson-Blizzard syndrome: case report and autopsy findings.

Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode

Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.

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50-57

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scholarly article

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10.2350/11-04-1020-OA.1

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2011-06-28T00:00:00Z

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21711208

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Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

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P2860

P2860

Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

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P698