Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. (Record no. 30877541)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02563 a2200781 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518095946.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202102s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1945-7197 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1210/clinem/dgaa218 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Sentchordi-Montané, Lucía |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210208 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical endocrinology and metabolism |
| Date of publication, distribution, etc. | 08 2020 |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Observational Study; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Body Height |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brachydactyly |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hand |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hedgehog Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Radiography |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benito-Sanz, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aza-Carmona, Miriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pereda, Arrate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parrón-Pajares, Manuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de la Torre, Carolina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vasques, Gabriela A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Funari, Mariana F A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Travessa, André M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dias, Patrícia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suarez-Ortega, Larisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | González-Buitrago, Jesús |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Portillo-Najera, Nancy Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Llano-Rivas, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martín-Frías, María |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramírez-Fernández, Joaquín |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sánchez Del Pozo, Jaime |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garzón-Lorenzo, Lucía |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martos-Moreno, Gabriel A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alfaro-Iznaola, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mulero-Collantes, Inés |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruiz-Ocaña, Pablo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Casano-Sancho, Paula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Portela, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruiz-Pérez, Lorea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Del Pozo, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vallespín, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Solís, Mario |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lerario, Antônio M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | González-Casado, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ros-Pérez, Purificación |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez de Nanclares, Guiomar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jorge, Alexander A L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heath, Karen E |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical endocrinology and metabolism |
| Related parts | vol. 105 |
| -- | no. 8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1210/clinem/dgaa218">https://doi.org/10.1210/clinem/dgaa218</a> |
| Public note | Available from publisher's website |
No items available.